Friday, 13 January 2017

FBN1 and TGF? 1: Molecular mechanisms in the pathogenesis of thoracic aortic aneurysms and dissections

Thoracic aortic aneurysms (TAAD) develop asymptomatically until occurs aortic rupture or dissection often cause of morbidity. A high mortality is determined by TAAD and complications developing. 15,000 people die every year due to the complications of TAAD in USA. It takes 14th place according to the reasons of mortality among 55 years people and older.

genetics and molecular biology journals
The main risk factors for TAAD formation still remain under discussion. Hypertension, atherosclerosis, age, gender and eventually genetic predisposition are on the focus for the research. Only in certain cases it is caused by aortitis, atherosclerosis or inherited as a single gene mutation: in the fibrillin genes - Marfan syndrome, by inherited collagen mutations as in Ehler-Danlos syndrome, by mutations of the transforming growth factor-beta gene causing Loeys-Dietz syndrome or by actin gene mutations. Evidence has shown that FBN1 mutations may predispose TAA in the absence of phenotypic characteristics of Marfan syndrome.