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Published on: August 5, 2017
Commonality in Down and fetal alcohol syndromes
Jeffrey P Solzak1, Yun Liang, Feng C Zhou
1Department of Biology, Indiana University-Purdue University Indianapolis, 723 W. Michigan Street, Indianapolis, IN 46202, USA.
Summary
Down syndrome (DS) and Fetal Alcohol Syndrome (FAS) share similar birth defects and underlying developmental mechanisms. This study found common craniofacial and neurological disruptions in mouse models, suggesting shared cellular and molecular pathways.
Area of Science:
- Developmental Biology
- Genetics
- Teratology
Background:
- Down syndrome (DS) and Fetal Alcohol Syndrome (FAS) are leading causes of birth defects with overlapping phenotypes, including craniofacial abnormalities and cognitive impairment.
- Despite distinct origins, DS and FAS may share common developmental mechanisms.
Purpose of the Study:
- To investigate shared craniofacial and neurological phenotypes between DS and FAS.
- To explore common underlying cellular and molecular mechanisms in DS and FAS development.
Main Methods:
- Literature review of DS and FAS phenotypes and mouse models.
- Comparative analysis of gene expression (Dyrk1a, Rcan1, Ttc3) and apoptosis (cleaved caspase 3) in embryonic mouse models.
- MicroCT craniometry analysis of postnatal mouse models.
Main Results:
- Over 20 comparable craniofacial and structural deficits identified in human DS/FAS and mouse models.
- Shared dysregulation of Dyrk1a and Rcan1 genes and increased cleaved caspase 3 expression in DS and FAS embryonic tissues.
- Evidence suggests trisomic Ttc3 overexpression in DS may impact cell survival pathways.
Conclusions:
- DS and FAS exhibit common dysmorphologies in humans and animal models.
- Shared cellular and molecular mechanisms, disrupted by trisomy or alcohol, contribute to DS and FAS phenotypes.
- This study highlights potential common pathways underlying these distinct developmental disorders.
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