Cerebellar transcriptional alterations with Purkinje cell dysfunction and loss in mice lacking PGC-1α. Lucas EK, Reid CS, McMeekin LJ, Dougherty SE, Floyd CL, Cowell RM. Front Cell Neurosci. 2015 Jan 6;8:441. doi: 10.3389/fncel.2014.00441. eCollection 2014.
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Recently, PGC-1α was also found to be involved in the pathology of Friedreich Ataxia. Friedreich Ataxia is an autosomal recessive disorder and is the most common of the early-onset hereditary ataxias. Friedreich Ataxia is caused by an expanded GAA triplet repeat in the first intron of the frataxin gene, resulting in a 65–95% reduction in frataxin expression in Friedreich Ataxia patients . Transcript expression of PGC-1α and its downstream target MnSOD was found to be decreased in fibroblasts and lymphoblasts of patients with Friedreich Ataxia. In fact, transcript expression of frataxin is highly correlated with that of PGC-1α in Friedreich Ataxia and control cells, and knock down of frataxin in cell culture also decreases transcript expression of PGC-1α.
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