Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections
نویسندگان
چکیده
منابع مشابه
Myosin light-chain kinase of smooth muscle stimulates myosin ATPase activity without phosphorylating myosin light chain.
Myosin light-chain kinase (MLCK) of smooth muscle is multifunctional, being composed of N-terminal actin-binding domain, central kinase domain, and C-terminal myosin-binding domain. The kinase domain is the best characterized; this domain activates the interaction of smooth-muscle myosin with actin by phosphorylating the myosin light chain. We have recently shown that the Met-1-Pro-41 sequence ...
متن کامل-Myosin Heavy Chain Gene Mutations in Familial Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy (FHC) is a genetic disorder arising from mutations in sarcomeric protein genes. Human genetic studies have implicated at least 9 different genes in FHC, emphasizing the enormous genetic and allelic heterogeneity associated with FHC.1 -Myosin heavy chain ( MyHC, MYH7) is the most commonly mutated gene in FHC, and at least 60 different MYH7 gene mutations have...
متن کاملPrognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.
Three novel beta cardiac myosin heavy chain (MHC) gene missense mutations, Phe513Cys, Gly716Arg, and Arg719Trp, which cause familial hypertrophic cardiomyopathy (FHC) are described. One mutation in exon 15 (Phe513Cys) does not alter the charge of the encoded amino acid, and affected family members have a near normal life expectancy. The Gly716Arg mutation (exon 19; charge change of +1) causes F...
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Isometrically suspended uteri from estrogen-primed rats were stimulated with prostaglandin F2 alpha and then exposed to relaxin. Relaxin-dependent decreases in the ratio of phosphorylated to total myosin light chains (MLC) and in MLC kinase activity, measured in the presence of 0.5 mg/ml of uterine myosin and the absence and presence of Ca2+-calmodulin (CaM), were observed. The time-course and ...
متن کاملFamilial thoracic aortic aneurysms and dissections.
Rupture of thoracic aortic aneurysms and/or dissections is not rare, occurring in approximately 0.6% of all medicolegal autopsies. Most forensic pathologists are aware of the association between thoracic aortic aneurysms/dissections and trauma, atherosclerosis, inflammation and Marfan syndrome. In this report, we discuss a familial form of thoracic aortic dilatation and/or dissection that is di...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2010
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.10.006