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Science 31 May 1968:
Vol. 160. no. 3831, pp. 1007 - 1009
DOI: 10.1126/science.160.3831.1007
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Articles

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

B. William Uhlendorf 1 and S. Harvey Mudd 1

1 National Institutes of Health, Bethesda, Maryland 20014

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 detected in intact normal skin.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Coexistence of Hereditary Homocystinuria and Factor V Leiden -- Effect on Thrombosis.
H. Mandel, B. Brenner, M. Berant, N. Rosenberg, N. Lanir, C. Jakobs, B. Fowler, and U. Seligsohn (1996)
N. Engl. J. Med. 334, 763-768
   Abstract »    Full Text »    PDF »
Pyridoxine-Dependent Hair Pigmentation in Association With Homocystinuria: The Induction of Melanotrichia.
W. B. Shelley, H. M. Rawnsley, and G. Morrow III (1972)
Arch Dermatol 106, 228-230
   Abstract »    PDF »


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