UCLA researchers have developed a mouse model that could enable control of the onset and progression of Friedreich's ataxia (FRDA), an autosomal recessive inherited disease that causes progressive damage to the nervous system and is the most common inherited ataxia.

FRDA is caused by recessive mutations that reduce the levels of frataxin (FXN), a mitochondrial iron binding protein. Researchers created an inducible mouse model of Fxn deficiency that enables control of the emergence and advancement of disease phenotypes by the modulation of Fxn levels.

The model was developed by a team led by Daniel Geschwind, the Gordon and Virginia MacDonald Distinguished Chair in Human Genetics and professor of Neurology and Psychiatry at the UCLA School of Medicine. Geschwind is director of the Neurogenetics Program and the Center for Autism Research and Treatment (CART), co-director of the Center for Neurobehavioral Genetics, and Program Leader for the Precision Medicine Program for UCLA CTSI.

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See the model described in an article published in eLife.

Image caption: Friedreich’s ataxia damages the spinal cord, peripheral nerves, and the cerebellum portion of the brain. Unsteady, awkward movements and a loss of sensation due to nerve injury develop as the disease progresses.

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