A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

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Mitochondrial DNA (mtDNA) contains 13 genes that encode essential subunits of the oxidative phosphorylation (OXPHOS) complexes, 2 rRNAs and 22 tRNAs [1]. The mitochondrial tRNA (mt-tRNA) genes, which contribute less than 10% of the total coding sequence of the mitochondrial genome, are known as pathogenic ‘hotspots’ because they are responsible for more than half of the mtDNA-related diseases [2, 3]. The point mutations in these mt-tRNA genes typically cause a loss of its stability leading to defective mitochondrial translation and combined respiratory chain deficiency [4].

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