Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
Article Abstract:
Malignant hyperthermia (MH) is an uncommon but potentially lethal response to anesthesia in which the muscles contract and the body cannot dissipate the heat generated by the sustained contraction. The predisposition to MH is often inherited in an autosomal dominant fashion. Several previous studies have indicated that calcium release channels in the muscle may be defective in individuals affected by MH. The calcium release channel, identified as a cellular receptor for the drug ryanodine, is thus a likely possibility for the location of the actual genetic defect. Research has now demonstrated that the gene for the ryanodine receptor is located in the q13.1 region of chromosome 19, which is very close to the location of the MH defect. A similar association between the ryanodine receptor gene and the MH gene is seen in experimental halothane-sensitive pigs. With the cloned DNA for the ryanodine receptor gene, it should now be possible to determine if the receptor gene co-segregates with the MH gene in families with a history of MH. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1990
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Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes
Article Abstract:
Dysregulated apoptosis can wrongly suppress cell death or can fail to control its extent. Encoding neuronal apoptosis inhibitor protein (NAIP), a candidate gene for spinal muscular atrophy, is identified. A NAIP-mediated inhibition of apoptosis brought about by a number of signals is demonstrated. Also introduced are three additional human complementary DNAs and a Drosphila melanogaster sequence homologous to the baculovirus IAPs.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1996
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Pumping ions
Article Abstract:
The first high-resolution structure of the sacro(endo)plasmic reticulum Ca2+-ATPase is discussed. It was possible to identify new ligands, especially mutation-sensitive backbone carbonyl groups on transmembrane helix M4.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2000
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