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Licensed Unlicensed Requires Authentication Published by De Gruyter November 12, 2014

Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP)

  • Ganesh S. Jevalikar EMAIL logo , Margaret Zacharin , Mary White , Steven W. Yau , Winnie Li , Charlotte Ijspeert , Vincenzo C. Russo , George A. Werther and Matthew A. Sabin

Abstract

Objective: We analyzed mRNA expression of X-linked inhibitor of apoptosis protein (XIAP) in patients with Turner syndrome (TS) and examined its association with phenotypic features.

Subjects and methods: XIAP mRNA expression levels were investigated in 98 patients with TS in total RNA extracted from blood leucocytes by real time quantitative polymerase chain reaction.

Results: Levels of XIAP mRNA were significantly lower in patients with bicuspid aortic valves (BAV; n=13) than those without (log XIAP –1.17±0.3 vs. –0.94±0.2, p=0.002). Significantly higher expression of XIAP mRNA was seen in patients with a mosaic karyotype and renal malformations (log XIAP –0.79±0.3 vs. –1.0±0.3, p=0.03). No correlations were seen between XIAP and other manifestations.

Conclusion: Abnormal expression of XIAP may be an important underlying mechanism in the development of BAV and renal malformations in TS. However, abnormal XIAP mRNA expression, as determined from peripheral mononuclear cells, does not appear to explain all the somatic and visceral stigmata of TS.


Corresponding author: Ganesh S. Jevalikar, Division of Endocrinology and Diabetes, Medanta Medicity Hospital, Sector 38, Gurgaon (Haryana), India 122 001, Phone: +91–124–4141414 Ext. 6518, Fax: +91–124–4834–111, E-mail:

Acknowledgments

Authors from the Murdoch Children’s Research Institute are supported by the Victorian Government Operational Infrastructure Support Program. M.A. Sabin is supported through a National Health and Medical Research Council Health Professional Training Fellowship (APP1012201).

Disclosure statement: All authors have nothing to disclose.

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Received: 2014-5-20
Accepted: 2014-9-26
Published Online: 2014-11-12
Published in Print: 2015-11-1

©2015 by De Gruyter

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