Article
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Nature genetics - 1 Dec 2007
Guo Dong-Chuan, Pannu Hariyadarshi, Tran-Fadulu Van, Papke Christina L, Yu Robert K, Avidan Nili, Bourgeois Scott, Estrera Anthony L, Safi Hazim J, Sparks Elizabeth, Amor David, Ades Lesley, McConnell Vivienne, Willoughby Colin E, Abuelo Dianne, Willing Marcia, Lewis Richard A, Kim Dong H, Scherer Steve, Tung Poyee P, Ahn Chul, Buja L Maximilian, Raman C S, Shete Sanjay S, Milewicz Dianna M
Abstract excerpt
The major function of vascular smooth muscle cells (SMCs) is contraction to regulate blood pressure and flow. SMC contractile force requires cyclic interactions between SMC alpha-actin (encoded by ACTA2) and the beta-myosin heavy chain (encoded by MYH11). Here we show that missense mutations in ACTA2 are responsible for 14% of inherited ascending thoracic aortic aneurysms and dissections (TAAD). Structural...
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