Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose
| Autor: | Frits A. Wijburg, Jan A.J.M. Bakkeren, R. J. A. Wanders, Wim Ruitenbeek, Jos P.N. Ruiter, J. M. F. Trijbels, N. Feller, R. C. A. Sengers |
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| Přispěvatelé: | Other departments |
| Rok vydání: | 1991 |
| Předmět: |
Male
medicine.medical_specialty Respiratory chain Cytochrome-c Oxidase Deficiency Biology Mitochondrion Oxidative Phosphorylation Pregnancy Prenatal Diagnosis Internal medicine Pyruvic Acid Genetics medicine Humans Cytochrome c oxidase Amnion Lactic Acid Pyruvates Cells Cultured Genetics (clinical) chemistry.chemical_classification Oxidase test Infant Newborn Metabolism Fibroblasts Mitochondria Glucose Enzyme Mitochondrial respiratory chain medicine.anatomical_structure Endocrinology chemistry Lactates biology.protein Chorionic villi Female Chorionic Villi Metabolism Inborn Errors |
| Zdroj: | Journal of inherited metabolic disease, 15(1), 84-91. Springer Netherlands |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/bf01800349 |
| Popis: | Formation of lactate and pyruvate from glucose was studied in cultured amniocytes and chorionic villus fibroblasts from controls, either untreated or treated with azide, an inhibitor of cytochrome c oxidase, or other inhibitors of the mitochondrial respiratory chain. Amniocytes with an established cytochrome c oxidase deficiency were also investigated. Control amniocytes treated with azide as well as cytochrome c oxidase deficient amniocytes displayed strongly increased lactate-to-pyruvate ratios after incubation with glucose, compared to control cells. Elevated lactate-to-pyruvate ratios were also found in chorionic villus fibroblasts in which complexes I, III or IV were inhibited by rotenone, antimycin or azide, respectively. We conclude that measurement of lactate and pyruvate production from glucose in cultured amniocytes and/or chorionic villus fibroblasts allows adequate prenatal diagnosis of systemic cytochrome c oxidase deficiency and presumably of other systemic deficiencies of mitochondrial respiratory chain enzymes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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