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Activity of biotin-dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis |
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| Authors: | Frances R Sweetman Kenneth M Gibson Lawrence Sweetman PhD William L Nyhan Homer Chin William Swartz Oliver W Jones |
| Affiliation: | 1. Department of Pediatrics, University of California, San Diego, La Jolla, CA 92092, U.S.A.;2. Department of Reproductive Medicine, University of California, San Diego, La Jolla, CA 92093, U.S.A.;3. Department of Medicine, University of California, San Diego, La Jolla, CA, U.S.A. |
| Abstract: | We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotindependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. the other enzymes. 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved inthe degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in whichthere is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester. |
| Keywords: | Chorionic: villus Prenatal diagnosis Carboxylase GABA metabolizing enzymes |
