Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF
- PMID: 15767514
- DOI: 10.1001/archneur.62.3.473
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF
Abstract
Background: The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes.
Objective: To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragged-red fibers.
Design: Case report.
Patient: A 25-year-old man had recurrent strokes, seizures, and myoclonus. His mother also had multiple strokes. A muscle biopsy specimen showed no ragged-red fibers but several strongly succinate dehydrogenase-reactive blood vessels.
Results: Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene.
Conclusions: These data confirm that ND5 is a genetic hot spot for overlap syndromes, including MELAS and strokelike and myoclonus epilepsy with ragged-red fibers.
Similar articles
-
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.Arch Neurol. 2004 Feb;61(2):269-72. doi: 10.1001/archneur.61.2.269. Arch Neurol. 2004. PMID: 14967777
-
MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.Metab Brain Dis. 2014 Mar;29(1):139-44. doi: 10.1007/s11011-013-9464-5. Epub 2013 Dec 12. Metab Brain Dis. 2014. PMID: 24338029
-
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.Arch Neurol. 2008 Mar;65(3):368-72. doi: 10.1001/archneurol.2007.67. Arch Neurol. 2008. PMID: 18332249
-
Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.Muscle Nerve Suppl. 1995;3:S113-8. doi: 10.1002/mus.880181423. Muscle Nerve Suppl. 1995. PMID: 7603511 Review.
-
Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome: A case-report and literature review (CARE-complaint).Medicine (Baltimore). 2020 Jun 12;99(24):e20310. doi: 10.1097/MD.0000000000020310. Medicine (Baltimore). 2020. PMID: 32541454 Free PMC article. Review.
Cited by
-
The molecular pathology of pathogenic mitochondrial tRNA variants.FEBS Lett. 2021 Apr;595(8):1003-1024. doi: 10.1002/1873-3468.14049. Epub 2021 Feb 12. FEBS Lett. 2021. PMID: 33513266 Free PMC article. Review.
-
Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation.Sci Rep. 2015 May 27;5:10480. doi: 10.1038/srep10480. Sci Rep. 2015. PMID: 26014388 Free PMC article.
-
A missense MT-ND5 mutation in differentiated Parkinson Disease cytoplasmic hybrid induces ROS-dependent DNA Damage Response amplified by DROSHA.Sci Rep. 2017 Aug 25;7(1):9528. doi: 10.1038/s41598-017-09910-x. Sci Rep. 2017. PMID: 28842646 Free PMC article.
-
Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.J Bioenerg Biomembr. 2010 Dec;42(6):443-8. doi: 10.1007/s10863-010-9314-7. J Bioenerg Biomembr. 2010. PMID: 21069442 Review.
-
Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus.Neuropathology. 2019 Jun;39(3):212-217. doi: 10.1111/neup.12551. Epub 2019 Apr 10. Neuropathology. 2019. PMID: 30972844 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Molecular Biology Databases
