AI Article Synopsis
- Mutations in the MFN2 gene may be responsible for a significant portion of Charcot-Marie-Tooth disease type 2 (CMT2), prompting a study on mitochondrial function in related cases.
- Researchers analyzed skin fibroblasts from four CMT2A patients with new mutations to examine mitochondrial structure and metabolism.
- Findings indicated that while mitochondrial shape remained normal, there was a notable decline in mitochondrial efficiency, potentially linking this to the development of axonal neuropathy in CMT2A.
Article Abstract
Objective: Mutations of the mitofusin 2 gene (MFN2) may account for at least a third of the cases of Charcot-Marie-Tooth disease type 2 (CMT2). This study investigates mitochondrial cellular bioenergetics in MFN2-related CMT2A.
Methods: Mitochondrial network morphology and metabolism were studied in cultures of skin fibroblasts obtained from four CMT2A patients harboring novel missense mutations of the MFN2 gene.
Results: Although the mitochondrial network appeared morphologically unaltered, there was a significant defect of mitochondrial coupling associated with a reduction of the mitochondrial membrane potential.
Interpretation: Our results suggest that the sharply reduced efficacy of oxidative phosphorylation in MFN2-related CMT2A may contribute to the pathophysiology of the axonal neuropathy.
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| http://dx.doi.org/10.1002/ana.21086 | DOI Listing |
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