PRJNA574037
Molecular genetics approaches to mitochondrial OXPHOS system diseases
Mitochondrial diseases are a group of inherited genetic disorders, with generally multisystem involvement and wide phenotypic variability, due to impairment of cell energy system (OXPHOS). The characteristics of these diseases as 1:5000-10000 overall prevalence, genetic heterogeneity (genetic origin is dual, mitochondrial DNA (mtDNA) and nuclear DNA (nDNA)), the wide clinical variability, makes diagnosis very laborious and complex. The objective of this project is to establish a molecular-genetic approach to mitochondrial OXPHOS system diseases and characterize factors that may influence the phenotypic presentation of these patients.