Cystathionine Synthase in Tissue Culture Derived from Human Skin: Enzyme Defect in Homocystinuria

@article{Uhlendorf1968CystathionineSI,
  title={Cystathionine Synthase in Tissue Culture Derived from Human Skin: Enzyme Defect in Homocystinuria},
  author={B. Uhlendorf and S. Mudd},
  journal={Science},
  year={1968},
  volume={160},
  pages={1007 - 1009}
}
Fibroblasts derived from normal human skin and from cells in amniotic fluid and grown in tissue culture have cystathionine synthase activity. Skin from homocystinuric patients gives rise to fibroblast lines with normal activities of methionine-activating enzyme, but with very low or undetectable cystathionine synthase activity. Thus, the enzyme lesion in homocystinuria is demonstrable in readily available human cells. Neither cystathionine synthase nor methionine-activating enzyme could be… Expand
Tissue Culture Techniques as an Aid to Prenatal Diagnosis and Genetic Counselling in Homocystinuria
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Skin fibroblasts from a mother with homocystinuria and her husband and newborn baby and a fibroblast cell line derived from amniotic fluid taken at 16 weeks' gestation showed low enzyme activity, which was similar to that found in the cell line cultured from the infant's skin biopsy. Expand
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This method is effective for the detection of heterozygotes for cystathionine synthase deficiency and one clinically and biochemically atypical patient had a synthase activity at the low end of the heterozygote range. Expand
Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria.
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Genetic heterogeneity in cystathionine synthase-deficient patients and some of the genetic implications of the demonstrated α2β2 subunit structure of mammalian Cystathia synthase are discussed. Expand
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A negative correlation appeared to exist between the level of residual enzyme activity and the pre-treatment severity of clinical symptoms of homocystinuria. Expand
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A variety of evidence indicates that patients with this type of homocystinuria are not deficient in cystathionine synthase activity, and a deficiency of this reductase activity can explain the biochemical abnormalities in these patients. Expand
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Heterozygotes can now be distinguished from patients and from normal individuals by determinat ion of synthase activity in cultured skin fibroblasts. Expand
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