PMID- 16397891
OWN - NLM
STAT- MEDLINE
DCOM- 20060327
LR  - 20161124
IS  - 1542-0752 (Print)
IS  - 1542-0752 (Linking)
VI  - 76
IP  - 1
DP  - 2006 Jan
TI  - Impact of methylenetetrahydrofolate reductase deficiency and low dietary folate 
      on the development of neural tube defects in splotch mice.
PG  - 55-9
AB  - BACKGROUND: The etiology of neural tube defects (NTDs) is multifactorial, with 
      environmental and genetic determinants. Folate supplementation prevents the 
      majority of NTDs, and a polymorphism in methylenetetrahydrofolate reductase 
      (MTHFR) has become recognized as a genetic risk factor. The mechanisms by which 
      folate affects NTD development are unclear. The Splotch (Sp) mouse is a 
      well-characterized mouse model for studying spontaneous NTDs. To assess the 
      potential interaction between folate metabolism and the Sp mutant in NTD 
      development, we studied mice with both Sp and Mthfr mutations, as well as the 
      interaction between Sp and low dietary folate. METHODS: Wild-type, single 
      Mthfr+/-mutant, single Sp/+mutant, and double mutant (Mthfr+/-, Sp/+) female mice 
      were mated with males of the same genotype. Embryos were examined for NTDs on 
      gestational day (GD) 13.5. To investigate the effects of folate deficiency on Sp 
      mice, Sp/+female mice were fed a control diet (CD), a moderately folic 
      acid-deficient diet (MFADD), or a severely folic acid-deficient diet (SFADD). 
      They were mated with Sp/+males and the embryos were examined. RESULTS: There were 
      no differences in the incidence or severity of NTDs in embryos from double-mutant 
      mating pairs compared to those from single Sp mutants. Embryos from Mthfr+/-dams 
      did not exhibit NTDs. Diets deficient in folate did not influence the incidence 
      or severity of NTDs in embryos from Sp/+mice. CONCLUSIONS: We did not observe an 
      interaction between Sp and Mthfr mutations, or between the Sp mutation and low 
      dietary folate, in NTD development in Splotch mice.
CI  - Copyright (c) 2005 Wiley-Liss, Inc.
FAU - Li, Deqiang
AU  - Li D
AD  - Department of Human Genetics, McGill University-Montreal Children's Hospital 
      Research Institute, Montreal, Canada.
FAU - Pickell, Laura
AU  - Pickell L
FAU - Liu, Ying
AU  - Liu Y
FAU - Rozen, Rima
AU  - Rozen R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Birth Defects Res A Clin Mol Teratol
JT  - Birth defects research. Part A, Clinical and molecular teratology
JID - 101155107
RN  - 0 (PAX3 Transcription Factor)
RN  - 0 (Paired Box Transcription Factors)
RN  - 0LVT1QZ0BA (Homocysteine)
RN  - 138016-91-8 (Pax3 protein, mouse)
RN  - EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2))
SB  - IM
MH  - Animals
MH  - Female
MH  - Folic Acid Deficiency/*complications
MH  - Gestational Age
MH  - Heterozygote
MH  - Homocysteine/blood
MH  - Methylenetetrahydrofolate Reductase (NADPH2)/*deficiency/genetics
MH  - Mice
MH  - Mice, Mutant Strains
MH  - Neural Tube Defects/*genetics/prevention & control
MH  - PAX3 Transcription Factor
MH  - Paired Box Transcription Factors/*genetics
MH  - Pregnancy
EDAT- 2006/01/07 09:00
MHDA- 2006/03/28 09:00
CRDT- 2006/01/07 09:00
PHST- 2006/01/07 09:00 [pubmed]
PHST- 2006/03/28 09:00 [medline]
PHST- 2006/01/07 09:00 [entrez]
AID - 10.1002/bdra.20223 [doi]
PST - ppublish
SO  - Birth Defects Res A Clin Mol Teratol. 2006 Jan;76(1):55-9. doi: 
      10.1002/bdra.20223.