Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Transcription profiling of human spinal cord from fetuses suffering from Lethal Congenital Contracture Syndrome LCCS vs control comparison

ABSTRACT: Collection of data from mRNA obtained from the spinal cord of three human fetuses suffering from Lethal Congenital Contracture Syndrome and two age-matched human fetuses aborted to unrelated causes.

ORGANISM(S): Homo sapiens

SUBMITTER: Niklas PakkasjÃ¤rvi

PROVIDER: E-GEOD-1481 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease.

Pakkasjärvi Niklas N Gentile Massimiliano M Saharinen Juha J Honkanen Jarno J Herva Riitta R Peltonen Leena L Kestilä Marjo M

Journal of neurobiology 20051201 3

Human spinal cord development is still poorly understood and detailed molecular analyses of human motoneuron diseases could improve our understanding of the normal developmental processes of the spinal cord. Lethal Congenital Contracture Syndrome (LCCS, MIM 253310) provides a human model to study the early motoneuronal development. A typical phenotype of LCCS fetuses consists of multiple joint contractures, distinct facial features, and hydrops. Tissue pathology is characterized by severe muscle ...[more]

PMID: 16155903

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Project description:Background: Congenital cytomegalovirus (cCMV) is a common intrauterine infection, leading to neurodevelopmental disabilities. Early prognostic assessment of the severity of cCMV has remained an ongoing challenge. We aimed to identify amniotic fluid biomarkers of the severity of cCMV-related fetal brain injury. Methods: Global proteome analysis was performed in mid-gestation amniotic fluid samples, comparing fetuses with severe cCMV to asymptomatic CMV-infected fetuses (the discovery cohort). The levels of selected differentially-excreted proteins were further determined by specific immunoassays, and evaluated in an independent validation cohort, including clinically-blinded amniotic fluid of CMV-infected fetuses from unrelated centers. Findings: Proteome analysis identified 29 amniotic fluid proteins with distinct abundance in fetuses with severe-, compared to asymptomatic, cCMV. Pathway analysis of the differentially-excreted proteins revealed enriched pathways of inflammatory response, cellular compromise, immunological disease, organismal injury, and neurological disease, underlining a link between excessive inflammation at the maternal-fetal interface and the development of cCMV-related fetal brain damage. Importantly, the levels of two of these proteins, chemerin and galectin-3-binding protein (Gal-3BP), selected for validation, demonstrated 88.2% sensitivity (each), 100-96.2% specificity, 100-93.8% positive predictive value, and 92.9-92.6% negative predictive value, with 0.98-0.97 area under the curve (for chemerin - Gal-3BP, respectively) in differentiating 17 fetuses with severe cCMV from 26 asymptomatic CMV-infected fetuses. Interpretation: These results identify the immunomodulatory proteins chemerin and Gal-3BP as new highly predictive amniotic fluid biomarkers of cCMV severity, which could guide early prognostic stratification and potential personalized treatment of cCMV-infected fetuses. Funding: Israel Science Foundation; Research Fund of the Hadassah Medical Organization

Dataset Information

Transcription profiling of human spinal cord from fetuses suffering from Lethal Congenital Contracture Syndrome LCCS vs control comparison

Publications

Indicative oligodendrocyte dysfunction in spinal cords of human fetuses suffering from a lethal motoneuron disease.

Similar Datasets

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