Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
December 7, 2000New England Journal of Medicine

Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

View Full Paper
Ask AI
Bookmark
Share

Why the study?

What are the genetic causes of familial dilated cardiomyopathy?

Population

21 kindreds with familial dilated cardiomyopathy

Design

Cohort

Authors

MKMitsuhiro KamisagoPediatric / Congenital CardiologySSSapna SharmaKaohsiung Medical UniversitySDSteven R. DePalmaGeneral Cardiology

Discussion

Loading...

Member takes

Implication

Supports sarcomere gene evaluation in familial dilated cardiomyopathy; leaves open prevalence, penetrance, and therapeutic implications.

Key Points

  • This research aims to identify genetic causes of familial dilated cardiomyopathy, particularly focusing on mutations in sarcomere protein genes.
  • Clinical evaluations were performed in 21 kindreds with familial dilated cardiomyopathy.
  • A genome-wide linkage study prompted the search for mutations in genes encoding sarcomere proteins.
  • Identified mutations were analyzed to understand their impact on heart mechanics.
  • A genetic locus for mutations linked to dilated cardiomyopathy was found at chromosome 14q11.2-13.
  • Dominant mutations causing early-onset ventricular dilatation and diminished contractile function were identified.
  • These mutations accounted for approximately 10 percent of familial dilated cardiomyopathy cases, impacting heart remodeling.

Structured PICO

What are the genetic causes of familial dilated cardiomyopathy?

P
Population
21 kindreds with familial dilated cardiomyopathy
I
Intervention
Genome-wide linkage study and genetic sequencing of sarcomere protein genes (beta-myosin heavy chain, troponin T, troponin I, and alpha-tropomyosin)
O
Outcome
Identification of disease-causing mutations associated with dilated cardiomyopathy

Mutations in sarcomere protein genes account for approximately 10% of familial dilated cardiomyopathy cases, particularly those with early-onset ventricular dilatation and dysfunction.

Cite This Study

Kamisago et al. (2000) studied this question.

synapsesocial.com/papers/69f53eb2e0fbb6efbd20377dhttps://doi.org/10.1056/nejm200012073432304
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A Mouse Model of Familial Hypertrophic Cardiomyopathy1996 · 560 citations
  2. 2Hypertrophic Cardiomyopathy1995 · 782 citations
  3. 3Familial Dilated Cardiomyopathy Locus Maps to Chromosome 2q311999 · 135 citations
  4. 4Guidelines for the study of familial dilated cardiomyopathies1999 · 449 citations
  5. 5Interaction of Deletion Mutants of Troponins I and T: COOH-Terminal Truncation of Troponin T Abolishes Troponin I Binding and Reduces Ca2+ Sensitivity of the Reconstituted Regulatory System1996 · 37 citations