Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a substrate for remethylation of homocysteine to methionine. Methionine is then converted to S-adenosylmethionine (SAM), the universal methyl donor. In the mouse, MTHFR levels are highest in the testis and mice deficient for a targeted mutation in the Mthfr gene are infertile. Analysis of prenatal gonocyte development provided evidence that the defect in the Mthfr mouse testis occurs shortly after birth. The expression profiles at the mRNA and protein levels suggest that Mthfr is expressed in the male germ line and is developmentally regulated, with a possible role in meiosis. Testicular phenotype was further characterized by altering the expression of this enzyme in an Mthfr folate deficiency animal model. While postnatal folate deficiency appears not to have adverse effects on spermatogenesis, it results in significantly reduced sperm numbers in males from the developmental study, regardless of their Mthfr genotype.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.81366 |
| Date | January 2004 |
| Creators | Neaga, Oana-Raisa |
| Publisher | McGill University |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Format | application/pdf |
| Coverage | Master of Science (Department of Human Genetics.) |
| Rights | All items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated. |
| Relation | alephsysno: 002166730, proquestno: AAIMR06429, Theses scanned by UMI/ProQuest. |
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