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Crooked tail (Cd) models human folate-responsive neural tube defects
1Laboratory of Molecular Neurobiology and Development, Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA.
Human Molecular Genetics
|November 5, 1999
Summary
A mouse model for neural tube defects (NTDs) shows folic acid (FA) significantly reduces NTD recurrence. This genetic model mimics human responses, aiding risk assessment and treatment strategies for folate-responsive NTDs.
Area of Science:
- Developmental biology
- Genetics
- Neuroscience
Background:
- Neural tube defects (NTDs) are common birth defects with complex genetic origins.
- Folic acid (FA) supplementation reduces NTD recurrence in humans, but the mechanism remains unclear.
- Identifying genetic models is crucial for understanding NTD pathogenesis and folate's role.
Purpose of the Study:
- To investigate the mouse strain Crooked tail (Cd) as a genetic model for folate-responsive NTDs.
- To elucidate the mechanism of folic acid's protective effect against NTDs.
- To identify genetic and gender-dependent factors contributing to NTDs.
Main Methods:
- Localization of the Cd locus using genetic mapping.
- Controlled diet studies assessing the effect of folic acid supplementation on Cd exencephaly.
- Comparative analysis of phenotypic expression and response to FA between male and female Cd embryos.
Main Results:
- The Cd locus was mapped to a specific genetic interval.
- Folic acid supplementation reduced exencephaly recurrence in Cd mice by 55% in a dose-dependent manner.
- Female Cd embryos exhibited higher susceptibility and greater response to FA rescue, mirroring human NTD patterns.
Conclusions:
- The Cd mouse strain serves as a valuable genetic model for studying folate-responsive NTDs.
- Folic acid's protective effect is independent of folate deficiency and influences NTD severity and survival.
- Further characterization of the Cd gene will reveal key factors in NTD development and gender-specific responses.