Researchers Identify Mutations In Charcot-Marie-Tooth Disease That Worsen Peripheral Nerve Damage

A combination of specific genetic mutations in Charcot-Marie-Tooth (CMT) disease that worsens peripheral nerve damage could be a helpful biomarker for predicting the severity of a given case of CMT, a Jackson Laboratory research team reports.

Either of two mutations impacting Scn8a — a sodium channel that is vital to the proper conduction of nerve impulses at the nodes of Ranvier — caused decreased sodium currents that led to severe neurological problems in the CMT mice, Burgess says. “These mutations, while innocuous on their own, can synergize with CMT-associated mutations to cause much more severe disease.” Continue reading Researchers Identify Mutations In Charcot-Marie-Tooth Disease That Worsen Peripheral Nerve Damage