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what is the difference between acta2 mutations & multisystemic smooth muscle dysfunction syndrome (msmds)? Many mutations in the ACTA2 gene have been found to date in patients with familial thoracic aortic aneurysms (dilatations and tears of the largest vessel in the body).
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To date, one case of familial MSMDS has been discovered,...
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Massachusetts General Hospital. Genetic, Vascular and...
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ACTA2 gene - Genetics Home Reference - NIH. (2019, February...
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Intro to ACTA2 Gene Mutations; What is MSMDS? Signs &...
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In humans, every gene in our body has two copies that we...
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10 Μαρ 2015 · ACTA2 mutations are associated with high risk of presentation with an acute aortic dissection. The lifetime risk for an aortic event is only 76%, suggesting that additional environmental or genetic factors play a role in expression of aortic disease in individuals with ACTA2 mutations. Introduction.
Mutations in the ACTA2 gene lead to abnormal production of alpha smooth muscle actin isotype 2, a protein that forms part of the scaffolding of the contractile (shrinking) system of smooth muscle cells.
More than 30 ACTA2 gene mutations have been identified in people with familial thoracic aortic aneurysm and dissection (familial TAAD). This disorder involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body.
29 Μαΐ 2024 · Explore the implications of ACTA2 gene mutations in vascular diseases, including thoracic aortic aneurysms, moyamoya disease, and patent ductus arteriosus. Learn about clinical manifestations, diagnostic approaches, and management strategies for affected individuals.
5 Φεβ 2024 · The ACTA2 gene encodes actin α2, a major smooth muscle protein in vascular smooth muscle cells. Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with...
ACTA2 mutations are associated with high risk of presentation with an acute aortic dissection. The lifetime risk for an aortic event is only 76%, suggesting that additional environmental or genetic factors play a role in expression of aortic disease in individuals with ACTA2 mutations.
