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Preliminary evidence for aortopathy and an x-linked parent-of-origin effect on aortic valve malformation in a mouse model of Turner syndrome

Hinton, Robert, Opoka, Amy, Ojarikre, Obah A., Wilkinson, Lawrence Stephen and Davies, William 2015. Preliminary evidence for aortopathy and an x-linked parent-of-origin effect on aortic valve malformation in a mouse model of Turner syndrome. Journal of Cardiovascular Development and Disease 2 (3) , pp. 190-199. 10.3390/jcdd2030190

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Abstract

Turner syndrome (TS), most frequently caused by X-monosomy (45,X), is characterized in part by cardiovascular abnormalities, including aortopathy and bicuspid aortic valve (BAV). There is a need for animal models that recapitulate the cardiovascular manifestations of TS. Extracellular matrix (ECM) organization and morphometrics of the aortic valve and proximal aorta were examined in adult 39,XO mice (where the parental origin of the single X was paternal (39,XPO) or maternal (39,XMO)) and 40,XX controls. Aortic valve morphology was normal (tricuspid) in all of the 39,XPO and 40,XX mice studied, but abnormal (bicuspid or quadricuspid) in 15% of 39,XMO mice. Smooth muscle cell orientation in the ascending aorta was abnormal in all 39,XPO and 39,XMO mice examined, but smooth muscle actin was decreased in 39,XMO mice only. Aortic dilation was present with reduced penetrance in 39,XO mice. The 39,XO mouse demonstrates aortopathy and an X-linked parent-of-origin effect on aortic valve malformation, and the candidate gene FAM9B is polymorphically expressed in control and diseased human aortic valves. The 39,XO mouse model may be valuable for examining the mechanisms underlying the cardiovascular findings in TS, and suggest there are important genetic modifiers on the X chromosome that modulate risk for nonsyndromic BAV and aortopathy.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Medicine
Neuroscience and Mental Health Research Institute (NMHRI)
Psychology
Publisher: MPDI
ISSN: 2308-3425
Funders: Research Councils UK, Cardiff University
Date of First Compliant Deposit: 30 March 2016
Date of Acceptance: 7 July 2015
Last Modified: 24 Apr 2019 13:49
URI: http://orca.cf.ac.uk/id/eprint/74508

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