1404 Accumulation and Assembly of Myosin in Hypertrophic Cardiomyopathy With the 403 Arg to Gln , 3 - Myosin Heavy Chain Mutation
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چکیده
The sarcomeric proteins and organization of cardiac myofibrils appeared intact in multiple unrelated patients with hypertrophic cardiomyopathy. In two subjects demonstrating the missense mutation at position 403 (Arg to Gln) in the 13-myosin heavy chain gene, total myosin and immunoreactive 3-myosin heavy chain levels were similar to those found in other patients with hypertrophic cardiomyopathy and various disease control subjects. No alteration in expression of the cardiac a-myosin heavy chain gene was observed. These results are consistent with the examined myosin heavy chain mutation, permitting proper accumulation and assembly of myosin while primarily impairing contractile function. The characteristic myocyte disarray would appear likely to be a secondary consequence of the mutations. (Circulation Research 1992;71:1404-1409)
منابع مشابه
Accumulation and Assembly of Myosin in Hypertrophic Cardiomyopathy With the 403 Arg to Gln , 3 - Myosin Heavy Chain Mutation
The sarcomeric proteins and organization of cardiac myofibrils appeared intact in multiple unrelated patients with hypertrophic cardiomyopathy. In two subjects demonstrating the missense mutation at position 403 (Arg to Gln) in the 13-myosin heavy chain gene, total myosin and immunoreactive 3-myosin heavy chain levels were similar to those found in other patients with hypertrophic cardiomyopath...
متن کاملAccumulation and assembly of myosin in hypertrophic cardiomyopathy with the 403 Arg to Gln beta-myosin heavy chain mutation.
The sarcomeric proteins and organization of cardiac myofibrils appeared intact in multiple unrelated patients with hypertrophic cardiomyopathy. In two subjects demonstrating the missense mutation at position 403 (Arg to Gln) in the beta-myosin heavy chain gene, total myosin and immunoreactive beta-myosin heavy chain levels were similar to those found in other patients with hypertrophic cardiomy...
متن کاملFunctional Analysis of the Mutations in the Human Cardiac b -Myosin that Are Responsible for Familial Hypertrophic Cardiomyopathy
More than 30 missense mutations in the b -cardiac myosin heavy chain gene have been shown to be responsible for familial hypertrophic cardiomyopathy. To clarify the effects of these point mutations on myosin motor function, we expressed wild-type and mutant human b -cardiac myosin heavy chains in insect cells with human cardiac light chains. The wild-type myosin was well purified with similar e...
متن کاملFunctional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome.
More than 30 missense mutations in the beta-cardiac myosin heavy chain gene have been shown to be responsible for familial hypertrophic cardiomyopathy. To clarify the effects of these point mutations on myosin motor function, we expressed wild-type and mutant human beta-cardiac myosin heavy chains in insect cells with human cardiac light chains. The wild-type myosin was well purified with simil...
متن کاملGenotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.
BACKGROUND We have previously described two distinct mutations in the beta-myosin heavy chain gene with markedly different clinical presentations and outcome: The 908Leu-->Val mutation was associated with a low disease penetrance and a benign prognosis. In contrast, the 403Arg-->Gln mutation in a Caucasian kindred was associated with a 100% disease penetrance and high incidence of sudden cardia...
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