Oxidative phosphorylation disease diagnosis

Although the mtDNA encodes only 13 polypeptide subunits of the OXPHOS enzymes, approximately 1,000 proteins are estimated to be necessary for proper OXPHOS function. Over the past 10 years a wide variety of adult and pediatric OXPHOS diseases were found to be caused by or associated with mitochondrial DNA (mtDNA) mutations and nuclear DNA mutations. These advances enhanced the ability to definitively diagnose patients, develop management plans, and provide genetic counseling. Recently described nuclear DNA and mtDNA mutations are enhancing our understanding of this complex group of diseases. The impact of these advances on our understanding of OXPHOS disease pathogenesis will be reviewed.