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Lysyl-Protocollagen Hydroxylase Deficiency in Fibroblasts from Siblings with Hydroxylysine-Deficient Collagen
Open accessAbstract
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.
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“Kyphoscoliotic EDS was the first inborn error of human collagen metabolism to be defined at the biochemical level, as early as 1972.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Krane et al., 1972
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Metadata
- Authors
- Krane, S. M., Pinnell, S. R., & Erbe, R. W.
- Affiliations
- Harvard University (US)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 1972-10
- Volume
- 69
- Issue
- 10
- Pages
- 2899-2903
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC389670
- OpenAlex
- W1987968808
- Cited by
- 157
- References
- 27
- Citations by year
- 2026: 1 · 2024: 2 · 2022: 2 · 2021: 5 · 2020: 4 · 2019: 1 · 2018: 3 · 2017: 2 · 2015: 3 · 2014: 2 · 2013: 2 · 2012: 2
- FWCI
- 5.47
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Helen Hay Whitney Foundation
- U.S. Public Health Service
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Physical Sciences › Materials Science › Biomaterials › Collagen: Extraction and Characterization
- Keywords
- lysine hydroxylation, collagen metabolism, inborn errors of metabolism, autosomal recessive inheritance, fibroblasts, scoliosis, joint laxity
- MeSH terms
- Adolescent, Adult, Amino Acids, Cells, Cultured, Child, Collagen, Consanguinity, Ehlers-Danlos Syndrome, Female, Fibroblasts, Humans, Hydrogen-Ion Concentration, Mixed Function Oxygenases, Hydroxylysine, L-Lactate Dehydrogenase, Lysine, Male, Metabolism, Inborn Errors, Methyltransferases, Proline, Procollagen-Proline Dioxygenase, Protein Precursors, Serine, Skin, Time Factors
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