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Genetic research - Sept. 2004


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  • Genetic research - Sept. 2004

    Genetics & Environmental Business Week

    September 30, 2004

    Mutations influencing mRNA could play a role in hypertrophic cardiomyopathy


    Genetic and phenotypic characterization of mutations in myosin-binding
    protein C (MYBPC3) have been studied in 81 families with familial hypertrophic

    Scientists in Denmark report, "Mutations in the MYBPC3 gene, encoding the
    sarcomere protein myosin-binding protein C, are among the most frequent causes
    of autosomal dominant familial hypertrophic cardiomyopathy (FHC). We studied the
    frequency, type, and pathogenetic mechanism of MYBPC3 mutations in an unselected
    cohort of 81 FHC families, consecutively enrolled at a tertiary referral center.

    P.S. Andersen and colleagues of the Statens Serum Institute in Copenhagen
    reported, "Nine mutations, six of which were novel, were found in 10 (12.3%) of
    the families using single-strand conformation polymorphism and DNA sequencing. A
    frameshift mutation in exon 2 clearly suggests that haploinsufficiency is a
    pathogenetic mechanism in FHC. In addition, splice site mutations in exon 6 and
    intron 31, a deletion in exon 13, and a nonsense mutation in exon 25, all lead
    to premature termination codons, most likely causing loss of function and

    "Furthermore, there were two missense mutations (D228N and A833 T) and one
    in-frame deletion (DeltaLys813). A considerable intrafamilial variation in
    phenotypic expression of MYBPC3-based FHC was noted, and we suggest that
    mutations influencing stability of mRNA could play a role in the variable
    penetrance and expressivity of the disease, perhaps via partial
    haploinsuffciency," they added.

    Andersen and colleagues published their study in the European Journal of
    Human Genetics (Genetic and phenotypic characterization of mutations in
    myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic
    cardiomyopathy: total or partial haploinsufficiency. Eur J Hum Genet,
    Knowledge is power ... Stay informed!
    YOU can make a difference - all you have to do is try!

    Dx age 12 current age 46 and counting!
    lost: 5 family members to HCM (SCD, Stroke, CHF)
    Others diagnosed living with HCM (or gene +) include - daughter, niece, nephew, cousin, sister and many many friends!
    Therapy - ICD (implanted 97, 01, 04 and 11, medication
    Currently not obstructed
    Complications - unnecessary pacemaker and stroke (unrelated to each other)

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