Relation between renin-angiotensin-aldosterone system and otosclerosis: a genetic association and in vitro study.

Objective/hypothesis: Angiotensin II (Ang II) may be implicated in the regulation of bone remodeling, and its activity is related to several gene polymorphisms including AGT M235T for plasmatic and tissular concentrations of angiotensinogen (AGT), ACE I/D for the angiotensin-converting enzyme activity, and AT(1)R A/C(1166) for the Ang II receptor function. The objective of this study was to investigate the implication of this hormone in otosclerosis.

Study Design: Prospective case-control study.

Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct.

Persistent patency of the arterial duct is one of the most common congenital cardiac malformations. We recently showed that mutations in the MYH11 gene result in a disease combining familial thoracic aortic aneurysm and dissection, along with patency of the arterial duct. It is also known that the smooth muscle myosin heavy chain is involved in the physiological closure of the arterial duct.