G2Cdb::Human Disease report

Disease id
D00000234
Name
Dilated cardiomyopathy
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002443 SERPINA3
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
Y (9563954) Microinsertion (MI) Y

References

  • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

    Olson TM, Michels VV, Thibodeau SN, Tai YS and Keating MT

    Department of Pediatrics, Division of Cardiology, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA. timo@howard.genetics.utah.edu

    To test the hypothesis that actin dysfunction leads to heart failure, patients with hereditary idiopathic dilated cardiomyopathy (IDC) were examined for mutations in the cardiac actin gene (ACTC). Missense mutations in ACTC that cosegregate with IDC were identified in two unrelated families. Both mutations affect universally conserved amino acids in domains of actin that attach to Z bands and intercalated discs. Coupled with previous data showing that dystrophin mutations also cause dilated cardiomyopathy, these results raise the possibility that defective transmission of force in cardiac myocytes is a mechanism underlying heart failure.

    Funded by: NCRR NIH HHS: M01-RR00064; NHLBI NIH HHS: 5-P50-HL-53773

    Science (New York, N.Y.) 1998;280;5364;750-2

Literature (1)

Pubmed - human_disease

  • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

    Olson TM, Michels VV, Thibodeau SN, Tai YS and Keating MT

    Department of Pediatrics, Division of Cardiology, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA. timo@howard.genetics.utah.edu

    To test the hypothesis that actin dysfunction leads to heart failure, patients with hereditary idiopathic dilated cardiomyopathy (IDC) were examined for mutations in the cardiac actin gene (ACTC). Missense mutations in ACTC that cosegregate with IDC were identified in two unrelated families. Both mutations affect universally conserved amino acids in domains of actin that attach to Z bands and intercalated discs. Coupled with previous data showing that dystrophin mutations also cause dilated cardiomyopathy, these results raise the possibility that defective transmission of force in cardiac myocytes is a mechanism underlying heart failure.

    Funded by: NCRR NIH HHS: M01-RR00064; NHLBI NIH HHS: 5-P50-HL-53773

    Science (New York, N.Y.) 1998;280;5364;750-2

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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