| Differences in purine metabolism in patients with Down's syndrome. | |
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MedLine Citation:
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PMID: 8123996 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Three enzymes intervening in de novo purine synthesis, as well as cystathionine B-synthetase, have been mapped to chromosome 21. In order to gain a better understanding of purine synthesis anomalies in Down's syndrome, the present authors studied the variations in mitotic index of lymphocyte cultures to which various inhibitors or metabolites of purine synthesis had been added. In spite of common gene dosage effects, unexpected and highly significant differences were noted between Down's syndrome patients without complications and those presenting with additional psychotic features. In Down's syndrome patients without complications, a highly significant decrease in mitotic index was noted in the presence of exogenous inosine. A significant decrease in the presence of adenosine and guanosine was also noted. These findings are in keeping with the expected metabolic repercussions of genes mapped to chromosome 21. In Down's syndrome patients with psychotic complications, the in vitro reactions were quite different. A paradoxal increase in mitotic index was noted in the presence of inosine and of adenosine, but the response to guanosine did not differ from that observed in normal controls. These findings were unexpected and seem to indicate that, in spite of the gene dosage effect, psychotic Down's syndrome patients are unable to compensate abnormal purine synthesis and resulting imbalances. Furthermore, a marked difference in purine metabolic reactions was noted between Down's syndrome patients receiving supplemental folic/folinic acid and those on no therapy. This suggests that some modulation of the gene dosage effect may be possible. |
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Authors:
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M A Peeters; A Megarbane; F Cattaneo; M O Rethore; J Lejeune |
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Publication Detail:
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Type: Comparative Study; Journal Article |
Journal Detail:
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Title: Journal of intellectual disability research : JIDR Volume: 37 ( Pt 6) ISSN: 0964-2633 ISO Abbreviation: J Intellect Disabil Res Publication Date: 1993 Dec |
Date Detail:
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Created Date: 1994-04-14 Completed Date: 1994-04-14 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9206090 Medline TA: J Intellect Disabil Res Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 491-505 Citation Subset: IM |
Affiliation:
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Institut de Progenèse, Paris, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adenosine
/
deficiency,
pharmacology Adolescent Child Chromosomes, Human, Pair 21 Down Syndrome / genetics, metabolism*, psychology Female Folic Acid / administration & dosage, pharmacology Guanosine / deficiency, pharmacology Humans Inosine / pharmacology Male Mitotic Index / drug effects Phenotype Purines / metabolism* |
| Chemical | |
Reg. No./Substance:
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0/Purines; 118-00-3/Guanosine; 58-61-7/Adenosine; 58-63-9/Inosine; 59-30-3/Folic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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