Study Reveals Reversibility of Friedreich’s Ataxia in Novel Mouse Model

Friedreich’s ataxia is an inherited disease that causes damage to the nervous system and a loss of coordination that typically progresses to muscle weakness. It can begin causing symptoms in childhood or early adulthood and, over time, it can also lead to vision loss and diabetes. Scientists seeking a better understanding of the disease have tried for years to replicate the disease’s symptoms and progression in laboratory mice, but until recently have been largely unsuccessful. Now, a team of UCLA researchers has recreated aspects of Friedreich’s ataxia in mice and shown that many early symptoms of the disease are completely reversible when the genetic defect linked to the ataxia is reversed. The findings were published online on December 19, 2017 in eLife. The open-access article is titled “Inducible and Reversible Phenotypes in a Novel Mouse Model of Friedreich’s Ataxia.” “Remarkably, most of the dysfunction we were seeing in the mice was reversible even after the mice showed substantial neurologic dysfunction,” said Dr. Daniel Geschwind, the Gordon and Virginia MacDonald Distinguished Chair in Human Genetics, a UCLA Professor of Neurology and Psychiatry, and the study’s senior author. “We were very surprised by the extent to which the mice improved.” The results, however, need to be replicated in humans before researchers know whether they can lead to new therapeutics for people with Friedreich’s ataxia. Friedreich’s ataxia is known to be caused by a genetic mutation in a gene called FXN. The mutation leads to reduced levels of frataxin, the protein encoded by FXN. Although doctors can manage some of the symptoms, there are no treatments for the disease.
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