| Folate metabolism in cells from fragile X syndrome patients and carriers. | |
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MedLine Citation:
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PMID: 6585141 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The in vitro folate sensitivity of the fragile site at Xq27 and the claims of a beneficial response of patients given folic acid prompted us to examine the folate metabolism in cells cultured from fragile X syndrome patients and carriers. Using Epstein-Barr virus we established permanent lymphoblastoid lines from 4 fragile X syndrome males and 3 carriers from 7 families. All these lines expressed the fragile site when 0.1 microM 5-fluorodeoxyuridine (FUdR) was added to the cultures 24 hr prior to harvest; thus, the lines seemed suitable for seeking an intrinsic defect. Fragile X syndrome patient and carrier lines and normal control cell lines did not differ in regard to folate requirement for growth, the ability to use homocysteine in place of methionine, the ability to utilize reduced folates as the sole folate source, or methotrexate sensitivity. These results suggest that no intrinsic defect in folate metabolism is present in fragile X syndrome cells. |
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Authors:
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J C Wang; R W Erbe |
Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 17 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1984 Jan |
Date Detail:
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Created Date: 1984-05-11 Completed Date: 1984-05-11 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 303-10 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Cell Line Child Clone Cells Culture Media Drug Resistance Female Fibroblasts / metabolism Folic Acid / metabolism* Fragile X Syndrome / genetics, metabolism* Genetic Markers Heterozygote* Homocysteine / pharmacology Humans Lymphocytes / metabolism Male Methotrexate / pharmacology Middle Aged Sex Chromosome Aberrations / metabolism* |
| Grant Support | |
ID/Acronym/Agency:
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5 T32 GM07748/GM/NIGMS NIH HHS; HD06356/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Culture Media; 0/Genetic Markers; 454-28-4/Homocysteine; 59-05-2/Methotrexate; 59-30-3/Folic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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