AANS Neurosurgeon | Volume 28, Number 3, 2019

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Study: Protein Key to Charcot-Marie-Tooth, Other Nerve Diseases

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A new study provides critical insight into a little-known, yet relatively common, inherited neurological condition called Charcot-Marie-Tooth disease. The findings point to a pathway to possible treatments for this disease and better understanding of other neurodegenerative disorders, including Alzheimer’s disease, that affect millions.

The study focused on two related proteins, MFN2 and MFN1, found on the outer membranes of mitochondria — structures inside the body’s cells that act as powerhouses by converting food into energy. Mitochondria play an especially critical role in nerve cells. Previous research has shown that mutated MFN2 causes mitochondria to malfunction in a common type of Charcot-Marie-Tooth disease — CMT type 2A.

The new research showed that increasing levels of MFN1 to counterbalance mutated MFN2 reduced symptoms of CMT type 2A and neurodegeneration in laboratory mice.

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