Identified genetic mutations that cause the 14% of the cases of a hereditary disorder of the aorta

MADRID, 11 (EUROPA PRESS) The mutations in a gene expressed in the células smooth muscle accounts for about 14 percent of the cases of aneurysm’arctic torácico hereditary, s&number;n a study from the University of Texas in Houston (united States), which is published in the edition’re a digital magazine ‘Nature Genetics’.

The authors explain that an aneurysm’arctic torácico is a widening of the wall of the aorta, the artery más largest of the body, which can lead to heart attack and stroke. Around one in five of all individuals affected by aneurysm’rticos torácicos and dissections (TAAD) have a family history of the disorder, suggesting a predisposici’n genética. S’the two genes have been implicated in familial cases of TAAD and result s’to around five per cent of such cases. The researchers analyzed the gene causing a new form of TAAD in a large family, and identified mutations in ACTA2, which encodes the alpha-actin of the m&number;muscle smooth. Mutations in ACTA2 alsoén were identified in individuals in 14 additional families affected by TAAD. The alpha-actin of the m&number;muscle smooth is the proteína más common and abundant in the células of the m&number;muscle, smooth, which are required for the contracci’n of the aorta and other vessels sanguíneos in the regulation’re the president’n and the flow of the blood. Another of the proteínas associated with TAAD, MYH11, interact&number;with ACTA2 in the regulation’n of the contracci’n células of the m&number;muscle smooth, and the authors suggest that this process must be crítico in the maintenance of the structural integrity of the aorta. It is unknown at the moment whether mutations in ACTA2 are involved in the cases are not family members of TAAD.