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Properties of monoamine oxidase in control and Lesch-Nyhan fibroblasts

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Abstract

Monoamine oxidase activity of the A type was measured in homogenates of cultured human skin fibroblasts. Twenty-four control lines had activities ranging over fifty-fold with an apparent bimodal distribution. Activity in fibroblasts from 20 patients with the Lesch-Nyhan syndrome fell in the low portion of the normal distribution with a mean activity about 50% that of the control mean (p<0.05). In a subgroup of control and Lesch-Nyhan lines with levels of enzyme activity from 0.9 to 179 pmol/min/mg protein, monoamine oxidase was similar with respect to apparent Km for tryptamine, thermal stability at 56 C, and sensitivity to clorgyline. Thus the lower mean levels of activity observed in the Lesch-Nyhan as compared to control fibroblasts were not associated with other altered properties of the enzyme. The bimodal distribution of enzyme activity suggests that a genetic polymorphism for monoamine oxidase may control levels of activity expressed in fibroblasts.

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Author notes

  1. Maria R. Castro Costa

    Present address: Department of Pharmacology SJ-30, University of Washington, 98195, Seattle, Washington

Authors and Affiliations

  1. Department of Human Genetics, Yale University School of Medicine, 06510, New Haven, Connecticut

    Maria R. Castro Costa, Susan B. Edelstein, Carmela M. Castiglione, Helen Chao & Xandra O. Breakefield

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  1. Maria R. Castro Costa
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  2. Susan B. Edelstein
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  3. Carmela M. Castiglione
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  4. Helen Chao
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  5. Xandra O. Breakefield
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Additional information

M. R. C. C. was funded by the Dystonia Medical Research Foundation. This work was supported by grants from USPHS—NS12105 and GM20124—and from the National Foundation-March of Dimes.

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Costa, M.R.C., Edelstein, S.B., Castiglione, C.M. et al. Properties of monoamine oxidase in control and Lesch-Nyhan fibroblasts. Biochem Genet 18, 577–590 (1980). https://doi.org/10.1007/BF00484403

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  • DOI: https://doi.org/10.1007/BF00484403

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