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<!--
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UID=892403
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ConceptID=C4023042
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the mitochondrion</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892403</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4023042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Mitochondrial abnormalities</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012103">HP:0012103</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Abnormality of the mitochondrion</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1369113" ref="tree=MeSH" title="MedGen record for Abnormal cellular phenotype">Abnormal cellular phenotype</a></span><ul><li><span class="TLline"><a href="/medgen/869173" ref="tree=MeSH" title="MedGen record for Abnormal cellular physiology">Abnormal cellular physiology</a></span><ul><li><span class="matched_ds">Abnormality of the mitochondrion</span><ul><li><span class="TLline"><a href="/medgen/863087" ref="tree=MeSH" title="MedGen record for Abnormal mitochondrial morphology">Abnormal mitochondrial morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868642" ref="tree=MeSH" title="MedGen record for Abnormal mitochondrial number">Abnormal mitochondrial number</a></span><ul><li><span class="TLline"><a href="/medgen/868102" ref="tree=MeSH" title="MedGen record for Decreased mitochondrial number">Decreased mitochondrial number</a></span></li><li><span class="TLline"><a href="/medgen/868101" ref="tree=MeSH" title="MedGen record for Increased mitochondrial number">Increased mitochondrial number</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868649" ref="tree=MeSH" title="MedGen record for Abnormal mitochondrial shape">Abnormal mitochondrial shape</a></span><ul><li><span class="TLline"><a href="/medgen/1841923" ref="tree=MeSH" title="MedGen record for Elongated mitochondria">Elongated mitochondria</a></span></li><li><span class="TLline"><a href="/medgen/1740956" ref="tree=MeSH" title="MedGen record for Mitochondrial hypertrophy">Mitochondrial hypertrophy</a></span></li><li><span class="TLline"><a href="/medgen/7664" ref="tree=MeSH" title="MedGen record for Mitochondrial swelling">Mitochondrial swelling</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/867369" ref="tree=MeSH" title="MedGen record for Abnormality of mitochondrial metabolism">Abnormality of mitochondrial metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/868721" ref="tree=MeSH" title="MedGen record for Abnormal activity of mitochondrial respiratory chain">Abnormal activity of mitochondrial respiratory chain</a></span><ul><li><span class="TLline"><a href="/medgen/892840" ref="tree=MeSH" title="MedGen record for Decreased activity of mitochondrial respiratory chain">Decreased activity of mitochondrial respiratory chain</a></span></li><li><span class="TLline"><a href="/medgen/868100" ref="tree=MeSH" title="MedGen record for Increased activity of mitochondrial respiratory chain">Increased activity of mitochondrial respiratory chain</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462906" ref="tree=MeSH" title="MedGen record for Abnormal iron deposition in mitochondria">Abnormal iron deposition in mitochondria</a></span></li><li><span class="TLline"><a href="/medgen/326605" ref="tree=MeSH" title="MedGen record for Decreased activity of the pyruvate dehydrogenase complex">Decreased activity of the pyruvate dehydrogenase complex</a></span></li><li><span class="TLline"><a href="/medgen/375407" ref="tree=MeSH" title="MedGen record for Deficiency or absence of cytochrome b(-245)">Deficiency or absence of cytochrome b(-245)</a></span></li><li><span class="TLline"><a href="/medgen/871117" ref="tree=MeSH" title="MedGen record for Electron transfer flavoprotein-ubiquinone oxidoreductase defect">Electron transfer flavoprotein-ubiquinone oxidoreductase defect</a></span></li><li><span class="TLline"><a href="/medgen/868267" ref="tree=MeSH" title="MedGen record for Mitochondrial depletion">Mitochondrial depletion</a></span><ul><li><span class="TLline"><a href="/medgen/867163" ref="tree=MeSH" title="MedGen record for Depletion of mitochondrial DNA in muscle tissue">Depletion of mitochondrial DNA in muscle tissue</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870274" ref="tree=MeSH" title="MedGen record for Mitochondrial lysine transport defect">Mitochondrial lysine transport defect</a></span></li><li><span class="TLline"><a href="/medgen/383965" ref="tree=MeSH" title="MedGen record for Mitochondrial malic enzyme reduced">Mitochondrial malic enzyme reduced</a></span></li><li><span class="TLline"><a href="/medgen/871161" ref="tree=MeSH" title="MedGen record for Mitochondrial propionyl-CoA carboxylase defect">Mitochondrial propionyl-CoA carboxylase defect</a></span></li><li><span class="TLline"><a href="/medgen/416588" ref="tree=MeSH" title="MedGen record for Mitochondrial respiratory chain defects">Mitochondrial respiratory chain defects</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_477139"><div><strong>Multiple congenital anomalies-hypotonia-seizures syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477139</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3275508</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477139">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763187"><div><strong>Peroxisome biogenesis disorder 2A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763187</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3550273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763187">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477139" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple congenital anomalies-hypotonia-seizures syndrome 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763187" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 2A (Zellweger)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35140138">Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yiu EM,
|
||
Bray P,
|
||
Baets J,
|
||
Baker SK,
|
||
Barisic N,
|
||
de Valle K,
|
||
Estilow T,
|
||
Farrar MA,
|
||
Finkel RS,
|
||
Haberlová J,
|
||
Kennedy RA,
|
||
Moroni I,
|
||
Nicholson GA,
|
||
Ramchandren S,
|
||
Reilly MM,
|
||
Rose K,
|
||
Shy ME,
|
||
Siskind CE,
|
||
Yum SW,
|
||
Menezes MP,
|
||
Ryan MM,
|
||
Burns J</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2022 May;93(5):530-538.
|
||
Epub 2022 Feb 9
|
||
doi: 10.1136/jnnp-2021-328483.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35140138" target="_blank">35140138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31586135">The metabolic face of migraine - from pathophysiology to treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gross EC,
|
||
Lisicki M,
|
||
Fischer D,
|
||
Sándor PS,
|
||
Schoenen J</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2019 Nov;15(11):627-643.
|
||
Epub 2019 Oct 4
|
||
doi: 10.1038/s41582-019-0255-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31586135" target="_blank">31586135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24082366">Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyers DE,
|
||
Basha HI,
|
||
Koenig MK</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2013;40(4):385-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24082366" target="_blank">24082366</a><a href="/pmc/articles/PMC3783139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20mitochondrion)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (140)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35777586">Augmenter of liver regeneration: Mitochondrial function and steatohepatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma AK,
|
||
Sharma A,
|
||
Subramaniyam N,
|
||
Gandhi CR</span><br />
|
||
<span class="medgenPMjournal">J Hepatol</span>
|
||
2022 Nov;77(5):1410-1421.
|
||
Epub 2022 Jun 28
|
||
doi: 10.1016/j.jhep.2022.06.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35777586" target="_blank">35777586</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31420039">Polycystic ovary syndrome and mitochondrial dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
Bao Y,
|
||
Zhou X,
|
||
Zheng L</span><br />
|
||
<span class="medgenPMjournal">Reprod Biol Endocrinol</span>
|
||
2019 Aug 16;17(1):67.
|
||
doi: 10.1186/s12958-019-0509-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31420039" target="_blank">31420039</a><a href="/pmc/articles/PMC6698037" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29456246">Mitochondrial dysfunction in diabetic kidney disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forbes JM,
|
||
Thorburn DR</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2018 May;14(5):291-312.
|
||
Epub 2018 Feb 19
|
||
doi: 10.1038/nrneph.2018.9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29456246" target="_blank">29456246</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27507608">Cockayne syndrome: Clinical features, model systems and pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karikkineth AC,
|
||
Scheibye-Knudsen M,
|
||
Fivenson E,
|
||
Croteau DL,
|
||
Bohr VA</span><br />
|
||
<span class="medgenPMjournal">Ageing Res Rev</span>
|
||
2017 Jan;33:3-17.
|
||
Epub 2016 Aug 6
|
||
doi: 10.1016/j.arr.2016.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27507608" target="_blank">27507608</a><a href="/pmc/articles/PMC5195851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27562289">Ovarian ageing: the role of mitochondria in oocytes and follicles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">May-Panloup P,
|
||
Boucret L,
|
||
Chao de la Barca JM,
|
||
Desquiret-Dumas V,
|
||
Ferré-L'Hotellier V,
|
||
Morinière C,
|
||
Descamps P,
|
||
Procaccio V,
|
||
Reynier P</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod Update</span>
|
||
2016 Nov;22(6):725-743.
|
||
Epub 2016 Aug 25
|
||
doi: 10.1093/humupd/dmw028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27562289" target="_blank">27562289</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20mitochondrion%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1447)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37120082">Mitochondrial and metabolic features of salugenesis and the healing cycle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naviaux RK</span><br />
|
||
<span class="medgenPMjournal">Mitochondrion</span>
|
||
2023 May;70:131-163.
|
||
Epub 2023 Apr 27
|
||
doi: 10.1016/j.mito.2023.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37120082" target="_blank">37120082</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34672721">Altered Cardiac Energetics and Mitochondrial Dysfunction in Hypertrophic Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ranjbarvaziri S,
|
||
Kooiker KB,
|
||
Ellenberger M,
|
||
Fajardo G,
|
||
Zhao M,
|
||
Vander Roest AS,
|
||
Woldeyes RA,
|
||
Koyano TT,
|
||
Fong R,
|
||
Ma N,
|
||
Tian L,
|
||
Traber GM,
|
||
Chan F,
|
||
Perrino J,
|
||
Reddy S,
|
||
Chiu W,
|
||
Wu JC,
|
||
Woo JY,
|
||
Ruppel KM,
|
||
Spudich JA,
|
||
Snyder MP,
|
||
Contrepois K,
|
||
Bernstein D</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2021 Nov 23;144(21):1714-1731.
|
||
Epub 2021 Oct 21
|
||
doi: 10.1161/CIRCULATIONAHA.121.053575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34672721" target="_blank">34672721</a><a href="/pmc/articles/PMC8608736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33640250">Cardiolipin, Mitochondria, and Neurological Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falabella M,
|
||
Vernon HJ,
|
||
Hanna MG,
|
||
Claypool SM,
|
||
Pitceathly RDS</span><br />
|
||
<span class="medgenPMjournal">Trends Endocrinol Metab</span>
|
||
2021 Apr;32(4):224-237.
|
||
Epub 2021 Feb 24
|
||
doi: 10.1016/j.tem.2021.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33640250" target="_blank">33640250</a><a href="/pmc/articles/PMC8277580" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32176382">Mitochondrial disease in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rahman S</span><br />
|
||
<span class="medgenPMjournal">J Intern Med</span>
|
||
2020 Jun;287(6):609-633.
|
||
Epub 2020 Apr 7
|
||
doi: 10.1111/joim.13054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32176382" target="_blank">32176382</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27491830">Diabetes and Cognitive Impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zilliox LA,
|
||
Chadrasekaran K,
|
||
Kwan JY,
|
||
Russell JW</span><br />
|
||
<span class="medgenPMjournal">Curr Diab Rep</span>
|
||
2016 Sep;16(9):87.
|
||
doi: 10.1007/s11892-016-0775-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27491830" target="_blank">27491830</a><a href="/pmc/articles/PMC5528145" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20mitochondrion%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1504)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35975308">Supplementing Glycine and N-Acetylcysteine (GlyNAC) in Older Adults Improves Glutathione Deficiency, Oxidative Stress, Mitochondrial Dysfunction, Inflammation, Physical Function, and Aging Hallmarks: A Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar P,
|
||
Liu C,
|
||
Suliburk J,
|
||
Hsu JW,
|
||
Muthupillai R,
|
||
Jahoor F,
|
||
Minard CG,
|
||
Taffet GE,
|
||
Sekhar RV</span><br />
|
||
<span class="medgenPMjournal">J Gerontol A Biol Sci Med Sci</span>
|
||
2023 Jan 26;78(1):75-89.
|
||
doi: 10.1093/gerona/glac135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35975308" target="_blank">35975308</a><a href="/pmc/articles/PMC9879756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33754031">The double-edged roles of ROS in cancer prevention and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Qi H,
|
||
Liu Y,
|
||
Duan C,
|
||
Liu X,
|
||
Xia T,
|
||
Chen D,
|
||
Piao HL,
|
||
Liu HX</span><br />
|
||
<span class="medgenPMjournal">Theranostics</span>
|
||
2021;11(10):4839-4857.
|
||
Epub 2021 Mar 4
|
||
doi: 10.7150/thno.56747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33754031" target="_blank">33754031</a><a href="/pmc/articles/PMC7978298" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31192814">Ketogenic diet for schizophrenia: clinical implication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarnyai Z,
|
||
Kraeuter AK,
|
||
Palmer CM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Psychiatry</span>
|
||
2019 Sep;32(5):394-401.
|
||
doi: 10.1097/YCO.0000000000000535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31192814" target="_blank">31192814</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29936596">Molecular mechanisms of hepatic lipid accumulation in non-alcoholic fatty liver disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ipsen DH,
|
||
Lykkesfeldt J,
|
||
Tveden-Nyborg P</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2018 Sep;75(18):3313-3327.
|
||
Epub 2018 Jun 23
|
||
doi: 10.1007/s00018-018-2860-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29936596" target="_blank">29936596</a><a href="/pmc/articles/PMC6105174" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20mitochondrion%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (911)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35358497">Mitochondrial dysfunction in diabetic tubulopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao L,
|
||
Liang X,
|
||
Qiao Y,
|
||
Chen B,
|
||
Wang P,
|
||
Liu Z</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2022 Jun;131:155195.
|
||
Epub 2022 Mar 28
|
||
doi: 10.1016/j.metabol.2022.155195.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35358497" target="_blank">35358497</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32290082">Lipotoxicity and Diabetic Nephropathy: Novel Mechanistic Insights and Therapeutic Opportunities.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Opazo-Ríos L,
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Mas S,
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2020 Apr 10;21(7)
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|
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<span class="bold">PMID: </span><a href="/pubmed/32290082" target="_blank">32290082</a><a href="/pmc/articles/PMC7177360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/27491830">Diabetes and Cognitive Impairment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zilliox LA,
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Chadrasekaran K,
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2016 Sep;16(9):87.
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doi: 10.1007/s11892-016-0775-x.
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<div class="nl"><a target="_blank" href="/pubmed/24082366">Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Meyers DE,
|
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Basha HI,
|
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Koenig MK</span><br />
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<span class="medgenPMjournal">Tex Heart Inst J</span>
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2013;40(4):385-94.
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<span class="bold">PMID: </span><a href="/pubmed/24082366" target="_blank">24082366</a><a href="/pmc/articles/PMC3783139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20mitochondrion%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (678)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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|
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<div class="portlet_content ln"><span class="medgenPMauthor">Marderstein AR,
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De Zuani M,
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Moeller R,
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Bezney J,
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Padhi EM,
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Wong S,
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Coorens THH,
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Xie Y,
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Xue H,
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Montgomery SB,
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Cvejic A</span><br />
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<span class="medgenPMjournal">Nature</span>
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2024 Oct;634(8032):104-112.
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Epub 2024 Sep 25
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doi: 10.1038/s41586-024-07946-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39322663" target="_blank">39322663</a><a href="/pmc/articles/PMC11446839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/38703861">Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Frye RE,
|
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Rincon N,
|
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McCarty PJ,
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Brister D,
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Scheck AC,
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Rossignol DA</span><br />
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<span class="medgenPMjournal">Neurobiol Dis</span>
|
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2024 Jul;197:106520.
|
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Epub 2024 May 3
|
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doi: 10.1016/j.nbd.2024.106520.
|
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<span class="bold">PMID: </span><a href="/pubmed/38703861" target="_blank">38703861</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/34932939">Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Tan C,
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Meng L,
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Lv M,
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He X,
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Sha Y,
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Tang D,
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Tan Y,
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Hu T,
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He W,
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Tu C,
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Nie H,
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Zhang H,
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Du J,
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Lu G,
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Fan LQ,
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Cao Y,
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Lin G,
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Tan YQ</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2022 Jan 6;109(1):157-171.
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Epub 2021 Dec 20
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doi: 10.1016/j.ajhg.2021.11.022.
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<span class="bold">PMID: </span><a href="/pubmed/34932939" target="_blank">34932939</a><a href="/pmc/articles/PMC8764202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31586135">The metabolic face of migraine - from pathophysiology to treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gross EC,
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Lisicki M,
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Fischer D,
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Sándor PS,
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Schoenen J</span><br />
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<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2019 Nov;15(11):627-643.
|
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Epub 2019 Oct 4
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||
doi: 10.1038/s41582-019-0255-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31586135" target="_blank">31586135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24082366">Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyers DE,
|
||
Basha HI,
|
||
Koenig MK</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2013;40(4):385-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24082366" target="_blank">24082366</a><a href="/pmc/articles/PMC3783139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20mitochondrion%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1859)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38703861">Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Frye RE,
|
||
Rincon N,
|
||
McCarty PJ,
|
||
Brister D,
|
||
Scheck AC,
|
||
Rossignol DA</span><br />
|
||
<span class="medgenPMjournal">Neurobiol Dis</span>
|
||
2024 Jul;197:106520.
|
||
Epub 2024 May 3
|
||
doi: 10.1016/j.nbd.2024.106520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38703861" target="_blank">38703861</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/37678265">Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Viering DHHM,
|
||
Vermeltfoort L,
|
||
Bindels RJM,
|
||
Deinum J,
|
||
de Baaij JHF</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Nephrol</span>
|
||
2023 Nov 1;34(11):1875-1888.
|
||
Epub 2023 Sep 6
|
||
doi: 10.1681/ASN.0000000000000224.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37678265" target="_blank">37678265</a><a href="/pmc/articles/PMC10631606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35885965">A Systematic Review of the Impact of Mitochondrial Variations on Male Infertility.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Amor H,
|
||
Hammadeh ME</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Jun 30;13(7)
|
||
doi: 10.3390/genes13071182.
|
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<span class="bold">PMID: </span><a href="/pubmed/35885965" target="_blank">35885965</a><a href="/pmc/articles/PMC9325252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31323519">Cerebral imaging in adult mitochondrial disorders.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2019 Sep 15;404:29-35.
|
||
Epub 2019 Jul 10
|
||
doi: 10.1016/j.jns.2019.07.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31323519" target="_blank">31323519</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27506553">The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Vincent AE,
|
||
Ng YS,
|
||
White K,
|
||
Davey T,
|
||
Mannella C,
|
||
Falkous G,
|
||
Feeney C,
|
||
Schaefer AM,
|
||
McFarland R,
|
||
Gorman GS,
|
||
Taylor RW,
|
||
Turnbull DM,
|
||
Picard M</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2016 Aug 10;6:30610.
|
||
doi: 10.1038/srep30610.
|
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<span class="bold">PMID: </span><a href="/pubmed/27506553" target="_blank">27506553</a><a href="/pmc/articles/PMC4978969" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20mitochondrion%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div></div>
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<div class="row">
|
||
<div class="col-lg-12 centered-lg">
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||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
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||
</div>
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||
</section>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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</div>
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</div>
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</div>
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||
|
||
|
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<script type='text/javascript' src='/portal/js/portal.js'></script><script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/js/4221766/3812534/4212053/3812535/3781605/4186313/2499590/3758627/4078478/3908752/3423/4018706/3891418/4212356/4078480/4078479/4025341/4076482/31971/35962/2733373/33966/3397055/4001808.js" snapshot="medgen"></script></body>
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