Contractile protein mutations and heart disease.

Abstract

Mutations in several muscle structural proteins (the myosin heavy chain, alpha tropomyosin, cardiac troponin T and myosin binding protein C) result in a genetically dominant heart disease, hypertrophic cardiomyopathy. Biochemical data from studies of mutant myosin suggest a dominant-negative mechanism for inheritance of this disease. The most likely primary defect is sarcomere dysfunction, which is followed by the major clinical symptoms.

• Authors: K L Vikstrom, L A Leinwand
• Journal: Current opinion in cell biology (Curr Opin Cell Biol) Vol. 8 Issue 1 Pg. 97-105 (Feb 1996) ISSN: 0955-0674 [Print] England
• PMID: 8791411 (Publication Type: Journal Article, Review)

Chemical References

• Contractile Proteins

Topics

• Contractile Proteins (genetics)
• Heart Diseases (genetics)
• Humans
• Mutation (physiology)