NDLI: Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen.

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Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen.

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Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Krane, S. M. Erbe, R. W. Pinnell, S. R.
Abstract	Cell culture studies were performed on members of a family in which two sisters, ages 9 and 12, have a similar disorder characterized clinically by severe scoliosis, joint laxity and recurrent dislocations, hyperextensible skin, and thin scars. The skin collagen from the sisters was markedly deficient in hydroxylysine, but other amino acids were present in normal amounts. Hydroxylysine in collagen from fascia and bone was reduced to a lesser extent. Since the most likely explanation for the hydroxylysine deficiency was a reduction in enzymatic hydroxylation of lysine residues in protocollagen, we measured the activity of lysyl-protocollagen hydroxylase in crude lysates of cultured skin fibroblasts. Enzyme activities in the two affected children were 14 and 10% of controls, whereas the activity was about 60% of normal in the mother, a pattern most consistent with autosomal recessive inheritance. The mutant enzyme demonstrated the same cofactor requirements as that from normal cells. Deficiency of lysyl-protocollagen hydroxylase is the first inborn error of human collagen metabolism to be defined at the biochemical level.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	10
Volume Number	69
Language	English
Publisher	National Academy of Sciences
Publisher Date	1972-01-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Ehlers-Danlos Syndrome Enzymology Hydroxylysine Metabolism Metabolism, Inborn Errors Mixed Function Oxygenases Adolescent Amino Acids Cells, Cultured Collagen Consanguinity Fibroblasts Hydrogen-Ion Concentration L-Lactate Dehydrogenase Lysine Methyltransferases Procollagen-Proline Dioxygenase Proline Protein Precursors Serine Skin Cytology Time Factors Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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