Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP)
Ganesh S Jevalikar, Margaret Zacharin, Mary White, Steven W Yau, Winnie Li, Charlotte Ijspeert, Vincenzo C Russo, George A Werther, Matthew A Sabin
Journal of Pediatric Endocrinology and Metabolism | WALTER DE GRUYTER GMBH | Published : 2015
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..View full abstract
Awarded by National Health and Medical Research Council Health Professional Training Fellowship
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).