The majority of patients with MELAS (mitochondrial encephalomyophathy, lactic acidosis, stroke-like episodes) carry a heteroplasmic A3243G mutation in the mitochondrial tRNA(Leu(UUR)). The mutation prevents modification of the wobble U base, impairing translation at UUA and UUG codons; however, whether this results in amino acid misincorporation in the mitochondrial translation products remains...

The majority of pedigrees with autosomal dominant cerebellar ataxia (ADCA) harbour a pathological expansion of a trinucleotide repeat at one of five genetic loci: spinocerebellar ataxia (SCA) 1, 2, 3, 6, and 7. Other loci have been associated with ADCA in a limited number of families, but in a significant number of pedigrees the genetic basis remains uncertain. Mitochondrial DNA (mtDNA) defects...

Members of the peroxisome proliferator-activated receptor gamma coactivator (PGC) family are potent inducers of mitochondrial biogenesis. We have tested the potential effect of increased mitochondrial biogenesis in cells derived from patients harboring oxidative phosphorylation defects due to either nuclear or mitochondrial DNA mutations. We found that the PGC-1alpha and/or PGC-1beta expression...

Cell and tissue damage in respiratory chain disorders have been related to increased production of reactive oxygen species (ROS). We measured telomere lengths in such disorders since ROS have also been implicated with telomere shortening. We investigated whole blood cell DNA of 14 patients with MELAS-related mitochondriopathy and two patients with the LHON-associated G11778A mutation of the mit...