Thursday, November 1, 2012
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Mutations in fetal long
noncoding RNA (lncRNA) as a diagnostic marker of hemolysis, liver enzymes and
low platelets (HELLP) syndrome
Human and in vitro
studies suggest fetal lncRNA mutations could help diagnose HELLP syndrome in
pregnant women. Genomic analysis of patients with HELLP syndrome and
unaffected family members identified associations between the syndrome in the
mother and multiple SNPs on an lncRNA on fetal chromosome 12q23.2. In a human
trophoblast cell line expressing wild-type lncRNA, antisense against lncRNA
sites corresponding to several of the SNPs decreased the cells' invasive
capacity, mimicking a clinical feature of HELLP syndrome, compared with
inactive control antisense. Ongoing work includes investigating whether fetal
lncRNA is detectable in maternal plasma.
Published online Nov. 1, 2012
Unpatented; available for
van Dijk, M. et al. J.
Clin. Invest.; published online Oct. 24, 2012;
Contact: Cees B.M. Oudejans, VU University Medical Center, Amsterdam,
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