investigation of trna(leu/lys) and atpase 6 genes mutations in huntingtons disease

huntington disease (hd) is a genetically dominant condition caused by expanded cag repeats which code for glutamine in the hd gene product, huntingtin. huntingtin is expressed in almost all tissues, so abnormalities outside the brain can also be expected. involvement of nuclei and mitochondria in hd pathophysiology has been suggested. in fact, mitochondrial dysfunction is reported in brains of patients suffering from hd. the trna gene mutations are one of hot spots that can cause mitochondrial disorders. in this study, possible mitochondrial dna (mtdna) damage was evaluated by screening for mutations in the trna(leu/lys) and atpase 6 genes of 20 patients with hd through pcr and automated dna sequencing. mutations, including an a8656g mutation in one patient, were observed which cause the disease. understanding the role of mitochondria in the pathogenesis of neurodegenerative diseases could potentially be important for the development of therapeutic strategies in hd.