Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

ABSTRACT:

Background

Thoracic aortic aneurysm/dissection (TAAD) is a common phenotype that may occur as an isolated manifestation or within the constellation of a defined syndrome. In contrast to syndromic TAAD, the elucidation of the genetic basis of isolated TAAD has only recently started. To date, defects have been found in genes encoding extracellular matrix proteins (fibrillin-1, FBN1; collagen type III alpha 1, COL3A1), proteins involved in transforming growth factor beta (TGFβ) signaling (TGFβ receptor 1 and 2, TGFBR1/2; and SMAD3) or proteins that build up the contractile apparatus of aortic smooth muscle cells (myosin heavy chain 11, MYH11; smooth muscle actin alpha 2, ACTA2; and MYLK).

Methods and result

In 110 non-syndromic TAAD patients that previously tested negative for

SUBMITTER: Renard M 

PROVIDER: S-EPMC3253210 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature