A missense mutation of cardiac β-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families

Haruhito Harada, Akinori Kimura, Hirofumi Nishi, Takehiko Sasazuki, Hironori Toshima

Research output: Contribution to journalArticle

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Abstract

A novel missense mutation of the cardiac β-myosin heavy chain gene was detected in five unrelated Japanese patients and their affected family members with hypertrophic cardiomyopathy (HCM) by using the polymerase chain reaction (PCR)-DNA conformation polymorphism (DCP) analysis. Sequencing analysis revealed an A to G transion at codon 778 leading to replacement of the Asp residue, which is adjacent to the interaction sites of myosin heavy chain (MHC) with actin and is a conserved amino acid residue in various MHC across species, to the Gly residue. Linkage study of the mutation and two dinucleotides repeat markers of the cardiac β-MHC gene in three affected families showed that the mutation was on the same haplotype of the cardiac β-MHC gene and linked to HCM. These observations strongly suggest that the 778Asp to Gly mutations is the cause of HCM in these affected individuals.

Original languageEnglish
Pages (from-to)791-798
Number of pages8
JournalBiochemical and Biophysical Research Communications
Volume194
Issue number2
DOIs
Publication statusPublished - Jul 30 1993

Fingerprint

Familial Hypertrophic Cardiomyopathy
Cardiac Myosins
Myosin Heavy Chains
Missense Mutation
Genes
Hypertrophic Cardiomyopathy
Mutation
Dinucleotide Repeats
Nucleic Acid Conformation
Polymerase chain reaction
Viperidae
Polymorphism
Codon
Haplotypes
Conformations
Actins
Amino Acids
Polymerase Chain Reaction
DNA

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

A missense mutation of cardiac β-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families. / Harada, Haruhito; Kimura, Akinori; Nishi, Hirofumi; Sasazuki, Takehiko; Toshima, Hironori.

In: Biochemical and Biophysical Research Communications, Vol. 194, No. 2, 30.07.1993, p. 791-798.

Research output: Contribution to journalArticle

Harada, Haruhito ; Kimura, Akinori ; Nishi, Hirofumi ; Sasazuki, Takehiko ; Toshima, Hironori. / A missense mutation of cardiac β-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families. In: Biochemical and Biophysical Research Communications. 1993 ; Vol. 194, No. 2. pp. 791-798.
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