Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation

doi:10.1016/j.biopha.2019.109068

Review

. 2019 Oct:118:109068.

doi: 10.1016/j.biopha.2019.109068. Epub 2019 Aug 9.

Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation

Zhi-Bin Wang¹, Jun-Yan Liu², Xiao-Jing Xu¹, Xiao-Yuan Mao¹, Wei Zhang¹, Hong-Hao Zhou¹, Zhao-Qian Liu³

Affiliations

¹ Departments of Clinical Pharmacology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China.
² Department of Orthopaedics, The First Affiliated Hospital of the University of South China, Hengyang 421001, PR China.
³ Departments of Clinical Pharmacology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China. Electronic address: zqliu@csu.edu.cn.

PMID: 31404774
DOI: 10.1016/j.biopha.2019.109068

Free article

Review

Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation

Zhi-Bin Wang et al. Biomed Pharmacother. 2019 Oct.

Free article

. 2019 Oct:118:109068.

doi: 10.1016/j.biopha.2019.109068. Epub 2019 Aug 9.

Authors

Zhi-Bin Wang¹, Jun-Yan Liu², Xiao-Jing Xu¹, Xiao-Yuan Mao¹, Wei Zhang¹, Hong-Hao Zhou¹, Zhao-Qian Liu³

Affiliations

¹ Departments of Clinical Pharmacology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China.
² Department of Orthopaedics, The First Affiliated Hospital of the University of South China, Hengyang 421001, PR China.
³ Departments of Clinical Pharmacology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China. Electronic address: zqliu@csu.edu.cn.

PMID: 31404774
DOI: 10.1016/j.biopha.2019.109068

Abstract

NBIA (Neurodegeneration with brain iron accumulation) is a group of inherited neurologic disorders characterized by marked genetic heterogeneity, in which iron atypical accumulates in basal ganglia resulting in brain magnetic resonance imaging changes, histopathological abnormalities, and neuropsychiatric clinical symptoms. With the rapid development of high-throughput sequencing technologies, ten candidate genes have been identified, including PANK2, PLA2G6, C19orf12, WDR45, FA2H, ATP13A2, FTL, CP, C2orf37, and COASY. They are involved in seemingly unrelated cellular pathways, such as iron homeostasis (FTL, CP), lipid metabolism (PLA2G6, C19orf12, FA2H), Coenzyme A synthesis (PANK2, COASY), and autophagy (WDR45, ATP13A2). In particular, PANK2, COASY, PLA2G6, and C19orf12 are located on mitochondria, which associate with certain subtypes of NBIA showing mitochondria dysregulation. However, the relationships among those four genes are still unclear. Therefore, this review is specifically focused on dysregulation of mitochondria in NBIA and afore-mentioned four genes, with summaries of both pathological and clinical findings.

Keywords: C19orf12; COASY; Mitochondria; Neurodegeneration with brain iron accumulation; PANK2; PLA2G6.

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Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation

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Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation

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