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[Genetic heterogeneity of hypertrophic cardiomyopathy in Japanese]

M Machida1

  • 1Department of Cardiovascular Medicine, Hokkaido University School of Medicine, Sapporo, Japan.

[Hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science
|July 1, 1994
PubMed

Insights

Genetic analysis of Japanese hypertrophic cardiomyopathy (HCM) revealed limited missense mutations in the beta-myosin heavy chain (beta-MHC) gene. These findings suggest different genetic causes for HCM in Japanese versus Caucasian populations.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Human Genetics

Background:

  • Familial hypertrophic cardiomyopathy (FHCM) is often linked to beta-myosin heavy chain (beta-MHC) gene mutations in Caucasian populations.
  • Previous studies suggest a distinct genetic linkage for Japanese FHCM, associated with DNA marker PALB on chromosome 18q.

Purpose of the Study:

  • To investigate the etiological significance of beta-myosin heavy chain (beta-MHC) gene mutations in Japanese hypertrophic cardiomyopathy (HCM) patients.
  • To identify sequence variations in exons 3-25 of the beta-MHC gene in Japanese FHCM kindreds and sporadic patients.

Main Methods:

  • Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was employed to analyze beta-MHC gene sequences.
  • Linkage analysis was performed using DNA markers F13B (chromosome 1q) and D11S916 (chromosome 11p-q).

Main Results:

  • Only one missense mutation (codon 741) was identified in a single Japanese FHCM kindred.
  • Two synonymous mutations were found in another kindred, with one also present in a sporadic patient.
  • Statistically negative linkage was observed with markers F13B and D11S916, suggesting they are not primary causes in these families.

Conclusions:

  • The beta-myosin heavy chain (beta-MHC) gene mutations are less prevalent in Japanese HCM patients compared to Caucasians.
  • Multiple causative genes likely contribute to HCM in the Japanese population.
  • The primary genetic determinants of HCM in Japanese individuals appear to differ from those in Caucasian populations.

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