M.P.1.01 Immunohistochemical studies of oxidative phosphorylation in skeletal muscle of patients with mitochondrial tRNA gene mutations

Abstract

Various clinical phenotypes originate from disturbed protein synthesis caused by mutations in the mitochondrial DNA (mtDNA) encoded tRNA genes. The myopathological abnormalities associated with tRNA gene mutations are most often non-specific. Today, immunohistochemistry is not routinely included in the diagnostic investigations for mitochondrial disorders. We evaluated oxidative phosphorylation (OXPHOS) immunodetection in patients with different mtDNA encoded tRNA gene mutations, to identify common and specific staining patterns.