Mutation of perinatal myosin heavy chain associated with a carney complex variant

Article Abstract:

The R6740 mutation of the MYH8 gene encoding perinatal myosin heavy chain causes a variant form of the carney complex associated with distal arthrogryposis, which includes typical spotty pigmentation of the skin, familial cardiac and cutaneous myxoma, and endocrinopathy. Novel roles for perinatal myosin in both the development of skeletal muscle and cardiac tumorigenesis are demonstrated.

Author: Basson, Craig T., Morton, Cynthia C., Veugelers, Mark, Bressan, Michael, McDermott, Deborah A., Chaudron, Jean-Marie, Weremowicz, Stanislawa, Zunamon, Alan, Destree Anne, Mabry, C. Charlton, Lefaivre, Jean-Francois
Evaluation, Genetic aspects, Genetic research, Arthrogryposis

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Cachexia in cancer-zeroing in on myosin

Article Abstract:

Cachexia is a condition associated with a variety of serious diseases, including cancer, AIDS and congestive heart failure. A study conducted to study the production of contractile proteins in myogenic cell cultures treated with a combination of TNF-alpha and interferon-gamma reported that a major effect of cytokines is the selective targeting of myosin in skeletal muscle.

Author: Chamberlain, Jeffrey S.
United Kingdom, Diagnosis, Cancer, Cachexia

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Myosin at the heart of the problem

Article Abstract:

Mutations in the cardiac beta-myosin heavy-chain isoform in humans are linked to the development of familial hypertrophic cardiomyopathy, one of the most common cardiac causes of sudden death among young people. From the standpoint of both clinical cardiology and basic muscle biology, the novel findings presented clearly raise many more questions than answer.

Author: Tardiff, Jil C.

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Subjects list: Research, Myosin
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