The Expression Of PGC-1α In The Peripheral Tissue Of Spinocerebellar Ataxia Type 6 Patients

ObjectiveTo investigate the clinical features, treatment effect and the expression of peroxisome proliferator-activated receptor-y, coactivator 1α(PGC-1α) in the myocyte for a pedigree of spinocerebellar ataxia type 6(SCA 6).MethodsClinical examinations were performed in all patients every half a year.The situation of improvement was messured with the assessment and rating of ataxia scores(SARA).We also detected the expression of PGC-la in the myocyte by Western blot. Statistical analysis was performed using the Graphpad prism5. We compared the variable by means of the pair t-test. A level of significance of p<0.05 was used.ResultsIn muscle biopsies, two patients showed mild muscle damage with mitochondrial dysfunction and one showed normal. But there was a decreased PGC-la expression in all. Clinical symptoms of patient Ⅲ3 were deteriorate. But the others’ clinical symptoms did not progress.ConclusionsMitochondrial dysfunction and an depression of PGC-la exist in the muscle of SCA6 patients. These findings imply that impaired function of mitochondrial may play a critical role in neurodegenerative disease, and that treatment with mitochondrial protective agents could exert therapeutic benefits.