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


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.


CONCLUSIONS
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.
Ganesh S
GS
Jevalikar
Margaret
M
Zacharin
Mary
M
White
Steven W
SW
Yau
Winnie
W
Li
Charlotte
C
Ijspeert
Vincenzo C
VC
Russo
George A
GA
Werther
Matthew A
MA
Sabin
D000293:Adolescent; D000328:Adult; D000368:Aged; D001021:Aortic Valve / Q000002:abnormalities* / Q000378:metabolism; D000082882:Bicuspid Aortic Valve Disease; D002648:Child; D002675:Child, Preschool; D005260:Female; D006349:Heart Valve Diseases / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D008875:Middle Aged; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D051636:X-Linked Inhibitor of Apoptosis Protein / Q000235:genetics / Q000378:metabolism*; D055815:Young Adult
D012333:RNA, Messenger; D051636:X-Linked Inhibitor of Apoptosis Protein; C496866:XIAP protein, human