Models of mitochondrial dysfunction with inducible expression of Polg pathogenic mutant variant

Mitochondrial dysfunctions, which underlie many systemic diseases in animals and humans, may arise from accumulation of mutations the mitochondrial genome. PolG-alpha enzyme encoded by Polg gene is crucial for replication repair The aim this study was to assess possible role dysfunctions using vitro vivo animal models. experiments involved transgenic mice with inducible expression mutant variant; methods included cell culture, real time PCR assay, fluorescence flow cytometry, skeletal muscle functional tests. results indicate that mouse embryonic fibroblasts (MEFs) expressing pathogenic variant have decreased membrane potential increased mitophagy markers compared control cultures. Transgenic develop dysfunction significantly affects muscular performance. In addition, mutated inhibits TCR subunit α CD3 coreceptor complex subunits δ ε total splenocyte populations cellularity thymus without altering its CD4/CD8 subpopulation ratio. Thus, provides a relevant model studying treatment vivo.