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General Information
Name
dilated cardiomyopathy 1MM
FlyBase ID
FBhh0000158
Disease Ontology Term
Parent Disease
Overview

This report describes dilated cardiomyopathy 1MM, also known as left ventricular noncompaction 10 (LVNC10), which is one of several forms of heart disease associated with the human cardiac myosin-binding protein C (MYBPC3) (see OMIM:600958). Information about fly models for this and related diseases can be found in the report 'cardiomyopathy, MYBPC3-related' (FBhh0000421).

[updated Oct. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: dilated cardiomyopathy
Symptoms and phenotype

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: (1) Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion); (2) arrhythmias and/or conduction system disease; (3) thromboembolic disease (from left ventricular mural thrombus) including stroke. [from Dilated Cardiomyopathy Overview, pubmed:20301486 2016.01.26]

Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010, pubmed:20551992). [from OMIM:115200, 2016.01.27]

Specific Disease Summary: dilated cardiomyopathy 1MM
OMIM report

[LEFT VENTRICULAR NONCOMPACTION 10; LVNC10](https://omim.org/entry/615396)

Human gene(s) implicated

[MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3](https://omim.org/entry/600958)

Symptoms and phenotype
Genetics

Dilated cardiomyopathy-1MM (CMD1MM) and left ventricular noncompaction-10 (LVNC10) are caused by heterozygous mutation in the MYBPC3 gene. [From OMIM:615396, 2016.02.01]

Cellular phenotype and pathology
Molecular information

Cardiac myosin-binding protein C (MYBPC3) is arrayed transversely in sarcomere A-bands and binds myosin heavy chain (see OMIM:160710) in thick filaments and titin (OMIM:188840) in elastic filaments. Phosphorylation of this protein appears to modulate contraction. [From OMIM:600958, 2016.02.01]

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. [provided by RefSeq, Jul 2008]

External links
Disease synonyms
CMD1MM
left ventricular noncompaction 10
left ventricular noncompaction-10
left ventricular noncompaction 10; LVNC10
LVNC10
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

No high-scoring orthologous gene to human MYBPC3 in Drosphila (see DIOPT, below).

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (0)
    Other Genes Used: Viral, Bacterial, Synthetic (0)
      Summary of Physical Interactions (0 groups)
      Alleles Reported to Model Human Disease (Disease Ontology) (3 alleles)
      Models Based on Experimental Evidence ( 3 )
      Modifiers Based on Experimental Evidence ( 3 )
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      References
      Alleles Representing Disease-Implicated Variants
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Selected mammalian transgenes
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      Publicly Available Stocks
      Selected Drosophila transgenes
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      Publicly Available Stocks
      RNAi constructs available
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      Selected Drosophila classical alleles
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      Publicly Available Stocks
      References (3)