Pyridinium cross-links in heritable disorders of collagen
Journal Article
·
· American Journal of Human Genetics
OSTI ID:186223
- Emory Univ., Atlanta, GA (United States); and others
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited disorders of collagen that is characterized by skin fragility, skin hyperextensibility, and joint hypermobility. EDS type VI is caused by impaired collagen lysyl hydroxylase (procollagen-lysine, 2-oxoglutarate 5-dioxygenase; E.C.1.14.11.4), the ascorbate-dependent enzyme that hydroxylates lysyl residues on collagen neopeptides. Different alterations in the gene for collagen lysyl hydroxylase have been reported in families with EDS type VI. In EDS type VI, impairment of collagen lysyl hydroxylase results in a low hydroxylysine content in mature collagen. Hydroxylysine is a precursor of the stable, covalent, intermolecular cross-links of collagen, pyridinoline (Pyr), and deoxypyridinoline (Dpyr). Elsewhere we reported in preliminary form that patients with EDS type VI had a distinctive alteration in the urinary excretion of Pyr and Dpyr. In the present study, we confirm that the increased Dpyr/Pyr ratio is specific for EDS type VI and is not observed in other inherited or acquired collagen disorders. In addition, we find that skin from patients with EDS type VI has reduced Pyr and increased Dpyr, which could account for the organ pathology. 19 refs., 1 tab.
- OSTI ID:
- 186223
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI
Alu-alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ethlers-Danlos syndrome
Journal Article
·
Sun Jan 31 23:00:00 EST 1993
· Genomics; (United States)
·
OSTI ID:6879912
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI
Journal Article
·
Thu Nov 30 23:00:00 EST 1995
· American Journal of Human Genetics
·
OSTI ID:186222
Alu-alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ethlers-Danlos syndrome
Journal Article
·
Mon Oct 31 23:00:00 EST 1994
· American Journal of Human Genetics
·
OSTI ID:56836