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: Jifa Zhu, Xiao Zhang, Ling Li
• Journal: Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis (Mitochondrial DNA A DNA Mapp Seq Anal) Vol. 27 Issue 2 Pg. 1340-2 ( 2016) ISSN: 2470-1408 [Electronic] England
• PMID: 25097009 (Publication Type: Journal Article)

Chemical References

• RNA, Transfer, Val

Topics

• Animals
• Base Sequence
• Cardiomyopathy, Hypertrophic (genetics)
• Conserved Sequence
• Evolution, Molecular
• Humans
• Molecular Sequence Data
• Mutation, Missense
• RNA, Transfer, Val (genetics)
• Sequence Alignment