Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene

  • Gomes A
  • Potter J
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Abstract

Mutations in the cardiac troponin I (CTnI) gene occur in similar to5% of families with familial hypertrophic cardiomyopathy (FHC) and 20 mutations in this gene that cause FHC have now been described. The clinical manifestations of CTnI mutations that cause FHC are diverse, ranging from asymptomatic with high life expectancy to severe heart failure and sudden cardiac death. Most of these FHC mutations in CTnI result in cardiac hypertrophy unlike cardiac troponin T FHC mutations. All CTnI FHC mutations investigated in vitro affect the physiological function of CTnI, but other factors such as environmental or genetic factors ( other genes that may affect the CTnI gene) are likely to be involved in influencing the severity of the phenotype produced by these mutations, since the distribution of hypertrophy among affected individuals varies within and between families. CTnI mutations mainly alter myocardial performance via changes in the Ca2+-sensitivity of force development and in some cases alter the muscle relaxation kinetics due to haemodynamic or physical obstructions of blood flow from the left ventricle

Author-supplied keywords

  • ALTER
  • AMINO-ACID SEQUENCE
  • ATPASE ACTIVITY
  • BIOLOGICAL-ACTIVITY
  • BLOOD-FLOW
  • Blood
  • CA2+ SENSITIVITY
  • CARDIAC-HYPERTROPHY
  • CLINICAL MANIFESTATIONS
  • COOH-TERMINAL DOMAINS
  • Ca2+ sensitivity of force
  • Cardiac Troponin
  • DEATH
  • FAILURE
  • FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
  • FAMILY
  • FHC
  • FORCE
  • FORCE DEVELOPMENT
  • GENE
  • GENES
  • HEART
  • HEART-FAILURE
  • HYPERTROPHIC CARDIOMYOPATHY
  • HYPERTROPHY
  • I
  • I GENE
  • IN-VITRO
  • INHIBITORY REGION
  • In Vitro
  • KINETICS
  • LEFT-VENTRICLE
  • LIFE
  • MUSCLE-RELAXATION
  • MUTATION
  • MUTATIONS
  • Muscle Relaxation
  • OBSTRUCTION
  • PERFORMANCE
  • PHYSIOLOGICAL-FUNCTION
  • PROTEIN-KINASE-A
  • REGULATORY PROPERTIES
  • RELAXATION
  • SEVERITY
  • SKELETAL-MUSCLE CONTRACTION
  • T
  • TROPONIN-I
  • TROPONIN-T
  • Troponin T
  • VITRO
  • blood flow
  • cardiac
  • cardiac hypertrophy
  • cardiac troponin I
  • cardiac troponin T
  • cardiomyopathy
  • development
  • flow
  • function
  • heart failure
  • hypertrophic
  • left ventricle
  • muscle
  • muscle contraction and calcium
  • phenotype
  • sudden cardiac death
  • thin filament regulation
  • troponin
  • troponin I
  • ventricle

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Authors

  • A V Gomes

  • J D Potter

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