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ACTA2 - actin alpha 2, smooth muscle. Synonym (s): ACTSA. Previous symbol (s) and name (s): actin, alpha 2, smooth muscle, aorta. Type: gene with protein product. Chromosomal location: 10q23.31. OMIM: 102620.
10 Μαρ 2015 · Individuals with ACTA2 mutations present with both type A and type B aortic dissections at significantly younger ages than individuals enrolled in the International Registry of Acute Aortic Dissection (IRAD) study 22 and are likely to report a family history of thoracic aortic disease.
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 · This article provides an overview of ACTA2 gene mutations, their implications, clinical manifestations, diagnostic approaches, and management strategies. Genetic Background: ACTA2 encodes for smooth muscle α-actin, a key protein involved in vascular smooth muscle cell contraction and function.
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). Only few of them, and primarily those that change the amino acid Arginine 179 (Arg179) are associated with a more extensive form of the disease that affects the whole body.
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.
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.
