New discoveries at the Duke Center for Human Genetics could open new research pathways to understanding an array of diseases of the peripheral nervous system, including Charcot-Marie-Tooth (CMT) disease.

The Duke neurogeneticists and their international colleagues found that CMT stems from an abnormality in the cellular powerhouses, or mitochondria, that fuel the nerves required for muscle control.

In seven families with CMT, a degenerative nerve disorder, the team discovered that defects in a gene critical to mitochondrial movement, known as mitofusin 2, underlies the disease symptoms.

Restoring the lost gene function through gene therapy might ultimately serve as an effective treatment for the disorder, which currently has no cure, the researchers reported in a recent issue of Nature Genetics.

The new findings uncover a whole new mechanism of action that can cause disease by damaging mitochondria, said lead author of the study Stephan Züchner of the Duke Center for Human Genetics and the department of neuropathology at the University Hospital Aachen in Germany.

“Mitochondria must link into constantly shifting networks through fusion and fission in order to provide the energy required for neurons to fire and stimulate muscles to move,” said Züchner. “Mitofusin 2 is critical to that process.”

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