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Holoprosencephaly: new models, new insights
1Department of Molecular, Cell and Developmental Biology, Mount Sinai School of Medicine, New York, NY 10029, USA. Robert.Krauss@mssm.edu
Expert Reviews in Molecular Medicine
|September 25, 2007
Summary
Holoprosencephaly (HPE) is a brain development disorder affecting forebrain division. New animal models offer insights into HPE
Area of Science:
- Developmental Biology
- Genetics
- Teratology
Background:
- Holoprosencephaly (HPE) is a common congenital brain malformation
- Characterized by incomplete forebrain division and facial midline defects
- HPE has inherited, sporadic, and environmentally influenced forms
Purpose of the Study:
- To review new animal models for studying HPE
- To elucidate the causes of HPE's variable presentation and specific anomaly pattern
Main Methods:
- Review of existing literature on HPE animal models
- Analysis of genetic and environmental factors in HPE pathogenesis
Main Results:
- New animal models provide tools to investigate HPE
- Suggests HPE arises from complex interactions of developmental signaling, genetics, and environment
Conclusions:
- Animal models are crucial for understanding HPE complexities
- Human HPE likely results from a multifactorial interplay
- Further research using these models can clarify HPE etiology and variability
