Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation - 18/09/19
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Graphical abstract |
Highlights |
• | We discussed clinical and pathological findings of NBIA-related genes, from the perspective of dysregulation in mitochondria. |
• | Mitochondria dysregulation with PANK2, COASY, PLA2G6, and C19orf12 have many of the same features. |
• | Abnormal lipid metabolism and anomalous ROS play a vital role in the NBIA pathogenic mechanism. |
• | Ferroptosis may play a key role in Neurodegeneration with brain iron accumulation. |
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.
Le texte complet de cet article est disponible en PDF.Keywords : Neurodegeneration with brain iron accumulation, Mitochondria, PANK2, COASY, PLA2G6, C19orf12
Plan
Vol 118
Article 109068- octobre 2019 Retour au numéro
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