Researchers have developed and characterized mouse models of Friedreich’s ataxia (FA) carrying a rare disease-causing mutation, a study reports.
The rare FXN gene mutation, dubbed G130V, is found in some FA patients alongside the common gene expansion defects seen in most cases. These patients experience less severe symptoms and slower disease progression, despite producing very low levels of frataxin protein.
Although researchers found that mice with two equivalent mutations had undetectable frataxin, grew smaller, and had low physical endurance and activity, their motor coordination remained intact.
Read more at: https://friedreichsataxianews.com/news/new-mouse-models-developed-rare-mutation-some-patients/
