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@MISC{Mller:279478,
author = {Müller, Stephan A and Lichtenthaler, Stefan},
title = {{D}ataset: {P}roteome analysis of amniotic fluid from
fetuses with myelomeningocele from singleton pregnancies},
publisher = {PRoteomics IDEntifications Database},
reportid = {DZNE-2025-00805},
year = {2025},
abstract = {Despite numerous studies on fetal therapy for
myelomeningoceles (MMC), the pathophysiology of this
malformation remains poorly understood. This study aimed to
analyze the biochemical profile and proteome of amniotic
fluid (AF) supernatants from MMC fetuses to explore the
prenatal pathophysiology. Proteome analysis was conducted in
18 MMC and 18 healthy singleton fetuses, as well as in 5
dichorionic pregnancies with MMC fetuses and their healthy
co-twins. ELISA tests were used to validate proteome
results. Biochemical analysis revealed anal incontinence in
$37\%$ of MMC cases (p<0.0001), while controls had a normal
profile. Proteomics identified 2453 quantified proteins,
with 39 significantly up-regulated and 10 down-regulated in
MMC. Up-regulated proteins included ectodomains of CHL1,
APLP1, SEZ6, SEZ6L, which are generated by the Alzheimer’s
disease-linked protease BACE1. Some proteins varied with
disease and gestational age, e.g., CNTN1, NEO1, and DRAXIN.
COL11A2 and EFNB1 decreased in MMC, rising in controls.
Contrary to the in-utero inflammation or meconium
neurotoxicity hypothesis, our results suggest a CSF leak in
AF. Abundance of brain and spinal cord proteins may aid
diagnosis, characterizing cases and informing prognosis for
couples.},
cin = {AG Lichtenthaler},
cid = {I:(DE-2719)1110006},
pnm = {352 - Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)32},
url = {https://pub.dzne.de/record/279478},
}