title: Is mitochondrial tRNA Leu(UUR) 3291T>C mutation pathogenic?
abstract: According to a recent report by Sunami et al., a maternally inherited Japanese family with variable phenotypes including mitochondrial myopathy, recurrent headache, and myoclonus and epilepsy had been described to be associated with mitochondrial tRNA(Leu(UUR)) 3291T>C mutation. In order to verify this association, we reanalyzed the clinical and molecular datasets obtained from Sunami's work; in addition, a phylogenetic approach was employed to evaluate the conservation index of this mutation among different species. We further utilized RNA Fold Web Server to predict the minimum free energy (MFE) of tRNA(Leu(UUR)) gene with and without this mutation. Most strikingly, a low level of conservation was found regarding 3291T>C mutation and a slight change in MFE had been observed between the wild type and the mutant. Our negative results gave no support for an active role for this mutation on the clinical expression of mitochondrial disorders.
authors.affiliation: Central Laboratory, Hangzhou First People's Hospital, Hangzhou, People's Republic of China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Ding
authors.forename: Jianhang
authors.initials: J
authors.lastname: Leng
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology; D017240:Mitochondrial Myopathies / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D010802:Phylogeny; D012356:RNA, Transfer, Leu / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D016415:Sequence Alignment; D013816:Thermodynamics
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu