PXD048510

PXD048510 is an original dataset announced via ProteomeXchange.

Title	Proteome analysis of amniotic fluid from fetuses with myelomeningocele from singleton pregnancies
Description	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.
HostingRepository	PRIDE
AnnounceDate	2025-03-13
AnnouncementXML	Submission_2025-03-13_04:37:25.073.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Stephan Mueller
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	timsTOF Pro

Revision	Datetime	Status	ChangeLog Entry
0	2024-01-12 08:34:49	ID requested
⏵ 1	2025-03-13 04:37:25	announced

10.1016/J.JPROT.2024.105372;

submitter keyword: myelomeningocele, spina bifida,amniotic fluid

Stefan F. Lichtenthaler
contact affiliation	DZNE Munich, Neuroproteomics, Feodor-Lynen Str. 17, 81377 Munich, Germany
contact email	stefan.lichtenthaler@dzne.de
lab head
Stephan Mueller
contact affiliation	DZNE Munich Neuroproteomics
contact email	stephan.mueller@dzne.de
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD048510
     1. Label: PRIDE project
     2. Name: Proteome analysis of amniotic fluid from fetuses with myelomeningocele from singleton pregnancies