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. 2006 Mar;38(3):343-9.
doi: 10.1038/ng1721. Epub 2006 Jan 29.

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

Limin Zhu  1 , Roger Vranckx, Philippe Khau Van Kien, Alain Lalande, Nicolas Boisset, Flavie Mathieu, Mark Wegman, Luke Glancy, Jean-Marie Gasc, François Brunotte, Patrick Bruneval, Jean-Eric Wolf, Jean-Baptiste Michel, Xavier Jeunemaitre
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Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

Limin Zhu et al. Nat Genet. 2006 Mar.

Abstract

We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic dissection (TAAD) and patent ductus arteriosus (PDA) and mapped the disease locus to 16p12.2-p13.13 (ref. 3). We now demonstrate that the disease is caused by mutations in the MYH11 gene affecting the C-terminal coiled-coil region of the smooth muscle myosin heavy chain, a specific contractile protein of smooth muscle cells (SMC). All individuals bearing the heterozygous mutations, even if asymptomatic, showed marked aortic stiffness. Examination of pathological aortas showed large areas of medial degeneration with very low SMC content. Abnormal immunological recognition of SM-MHC and the colocalization of wild-type and mutant rod proteins in SMC, in conjunction with differences in their coimmunoprecipitation capacities, strongly suggest a dominant-negative effect. Human MYH11 gene mutations provide the first example of a direct change in a specific SMC protein leading to an inherited arterial disease.

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