title: Transition of 1628C > T in mitochondrial tRNAVal gene should not be regarded as a mutation associated with hypertrophic cardiomyopathy.
abstract: Diagnosis of hypertrophic cardiomyopathy (HCM) involved the screening for the candidate pathogenic mitochondrial DNA (mtDNA) mutations. However, a poor genotype to phenotype correction is common. Neutral polymorphisms in mt-tRNA gene are recognized as a potential cause for HCM. Thus, assigning the pathogenicity for mt-tRNA mutation is important for both clinical and genetic scientists when confronted with a disease exhibiting the clinical and biochemical features of mitochondrial dysfunction. In this report, we reassess the role of mt-tRNA(Val) 1628C > T mutation in HCM expression. We first carried out a systematic search in the published database, finding out the genotype and phenotype corrections for this mutation. Moreover, we perform a phylogenetic approach to see whether this mutation is conserved or not. Most strikingly, the 1628C > T mutation is not conserved and a slight change of entropy is observed between the wild type and the mutant carrying the 1628C > T mutation. Our data indicate that the 1628C > T transition should not be regarded as a mutation associated with HCM.
authors.affiliation: a Cardiology Department , First Affiliated Hospital of Zhengzhou University , Zhengzhou , China.
authors.forename: Jifa
authors.initials: J
authors.lastname: Zhu
authors.affiliation: a Cardiology Department , First Affiliated Hospital of Zhengzhou University , Zhengzhou , China.
authors.forename: Xiao
authors.initials: X
authors.lastname: Zhang
authors.affiliation: a Cardiology Department , First Affiliated Hospital of Zhengzhou University , Zhengzhou , China.
authors.forename: Ling
authors.initials: L
authors.lastname: Li
mesh_terms: D000818:Animals; D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D017124:Conserved Sequence; D019143:Evolution, Molecular; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D012366:RNA, Transfer, Val / Q000235:genetics*; D016415:Sequence Alignment
chemical_list: D012366:RNA, Transfer, Val
keywords: 1628C > T mutation; HCM; mt-tRNAVal; polymorphism