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

摘要: OBJECTIVE We analyzed mRNA expression of X-linked inhibitor apoptosis protein (XIAP) in patients with Turner syndrome (TS) and examined its association phenotypic features. SUBJECTS AND METHODS XIAP levels were investigated 98 TS total RNA extracted from blood leucocytes by real time quantitative polymerase chain reaction. RESULTS Levels significantly lower bicuspid aortic valves (BAV; n=13) than those without (log -1.17±0.3 vs. -0.94±0.2, p=0.002). Significantly higher was seen a mosaic karyotype renal malformations -0.79±0.3 -1.0±0.3, p=0.03). No correlations between other manifestations. CONCLUSION Abnormal may be an important underlying mechanism the development BAV TS. However, abnormal expression, as determined peripheral mononuclear cells, does not appear to explain all somatic visceral stigmata