The Identification of Mitochondrial tRNAMet, Ile, Gln, Phe Genes Mutations in Iranian Patients with Non-dystrophic Myotonia

The non-dystrophic myotonias are an important group of skeletal muscle channelopathies Since the main function of mitochondria is electrophysiologically characterized by altered membrane excitability. producing of energy or ATP, and ATP is essential for muscle contraction, mutations in mitochondrial genome can The aim of this study is to identify possible mutations tRNAMet, be associated with a variety of muscle diseases. tRNAIle, tRNAGln, tRNAPhe in the mitochondrial genome of patients with non-dystrophic myotonia. and methods: total genomic was extracted from peripheral blood of 28 Iranian patients with NDMs and 28 control persons. A piece of mitochondrial genome contains tRNAMet, tRNAIle, tRNAGln and tRNAPhe genes were amplified by PCR .The SSCP technique was used for screening of possible mutations and Samples with different patterns were sent for A750G sequencing. T4454C mutation was found in three patients. This mutation is located in T loop of tRNAMet. and G709A mutations also observed in two patients that are located in RNR1 gene and encodes 12S rRNA. According to the past research and multiple sequence alignment, all three mutations are polymorphisms and their locations arent fully protected. Due to the importance of polymorphisms in susceptibility to diseases, this polymorphisms may cooperate with other mutations and environmental factors to increase the severity of this disease

Keywords:

Non-dystrophic Myotonias , Mitochondrial tRNA , polymorphisms