Stress-response proteins in cardiovascular disease
Article Abstract:
Stress proteins, which have been called heat shock proteins (HSPs), have a role in endogenous cellular defense mechanisms in a range of pathologic conditions in humans. Various kinds of stresses bring on expression of HSP genes, not heat stress alone. Protein oxidative damage occurs at the time of myocardial disease or ischemic stroke, abut stress proteins offer protection in organs that remain intact. A missense mutation of the alpha B-crystallin chaperone brings on skeletal and cardiac myopathy. It may be that aggregate formation is not a secondary, as opposed to primary, cause of the pathogenesis of some diseases. Pathogenic mechanisms that bring on aggregate formation may activate protective mechanisms. Protein aggregates and protein damage are factors of significance in pathogenesis of some inherited diseases, among them cystic fibrosis, and of some other diseases.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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Insights from model systems: learning from the slime mold: Dictyostelium and human disease
Article Abstract:
Research on Dictyostelium, a social amoeba in soil, has led to information about the relationship between the Wiskott-Aldrich syndrome (WAS) and a new family of proteins, SCARs (suppressor of cAMP receptor defects). The proteins seem to be fundamentally significant to control of actin cytoskeleton dynamics, which are not as they should be in WAS and other human genetic diseases. Dictyostelium research has found cellular characteristics shared in various phyla, and although evolutionarily humans and cellular slime molds are distant, Dictyostelium discoideum mutations can give insights directly into human disease processes.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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