Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary peripheral neuropathy. The main axonal form of CMT, CMT2A, preferentially affects peripheral neurons with the longest neurites. CMT2A has been recently linked to mutations in the mitofusin 2 (Mfn2) gene. Mfn2 participates in mitochondrial fusion a process that together with mitochondrial fission, contributes to mitochondrial morphology. Many hypotheses have been postulated to understand how mutations in Mfn2 lead to CMT2A. In this review, we will describe the physiological role of Mfn2, the pathophysiology of CMT2A and current hypotheses about the deleterious role of mutant Mfn2 in neuronal function.
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Article Synopsis
- The study focuses on the limited wellbeing research in individuals with Charcot-Marie-Tooth disease (CMT) and aims to identify challenges they face that are often overlooked in traditional mental health assessments.
- In 2021, 288 adults with CMT participated in an online survey that included both established and new measures, followed by open-ended responses regarding their experiences.
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