Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

作者： J. Lauber , C. Marsac , B. Kadenbach , P. Seibel

关键词: Mitochondrial DNA 、 RNA 、 Kearns–Sayre syndrome 、 Genetics 、 Biology 、 Molecular biology 、 Chronic progressive external ophthalmoplegia 、 Mitochondrion 、 Point mutation 、 Mitochondrial myopathy 、 Transfer RNA

摘要: We have sequenced the tRNA genes of mtDNA from patients with chronic progressive external ophthalmoplegia (CPEO) without detectable deletions. Four point mutations were identified, located within highly conserved regions mitochondrial genes, namely tRNA(Leu)(UAG), tRNA(Ser)(GCU), tRNA(Gly) and tRNA(Lys). One these (tRNA(Leu)(UAG)) was found in four different forms myopathy. An accumulation three (tRNA(Leu)(UAG)), tRNA(Ser)(GCU) observed a single patient, suggesting that represent hotspots for causing neuromuscular diseases.