Impact on oxidative phosphorylation of immortalization with the telomerase gene

摘要: Skin fibroblasts are essential tools for biochemical, genetic and physiopathological investigations of mitochondrial diseases. Their immortalization has been previously performed to overcome the limited number divisions these primary cells but it never systematically evaluated with respect efficacy impact on oxidative phosphorylation (OXPHOS) characteristics cells. We successfully immortalized human telomerase gene 15 populations, 4 derived from controls 11 patients diverse respiratory chain defects. Immortalization induced significant mild modification OXPHOS lower rates oxygen consumption ATP synthesis associated their loose coupling. However, significantly altered type severity any defect present prior immortalization. Furthermore, did not modify cells' dependence glucose sensitivity galactose thus showing that could be screened by nutritional requirement. Immortalized skin provide reliable diagnosis research cause They also represent precious material investigate cellular responses defects, even though should afterwards verified in unmodified