Biochemical characterization of variants of the Ehlers-Danlos syndrome type VI

European Journal of Clinical Investigation
A IhmeP K Müller

Abstract

Three variants of the Ehlers-Danlos syndrome type VI are described: a severe form with skeletal, dermal and ocular manifestations associated with a lack of hydroxylysine in skin and little lysyl hydroxylase activity in cultured fibroblasts; a similarly affected form with a nearly normal hydroxylsine content in skin, but with only little enzyme activity in cultured fibroblasts; and a predominantly ocular form with no biochemical abnormality in skin or cultured skin fibroblasts. The activities of prolyl 4-hydroxylase and the two hydroxylysyl glycosyltransferases were normal in all cases, and the failure to find lysyl hydroxylase activity was not due to altered solubility characteristics of the enzyme or to the presence of an enzyme inhibitor. The collagen produced in cell culture, however, was hydroxylated to a markedly higher extent than that found in skin. In both the mutant and control cells hydroxylation of lysyl residues was less sensitive to ascorbate deficiency than that of prolyl residues.

References

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Citations

Aug 9, 1984·The New England Journal of Medicine·D J Prockop, K I Kivirikko
Dec 17, 2008·Molecular and Cellular Biology·Belinda ScheggThierry Hennet
Apr 1, 1988·European Journal of Clinical Investigation·T KriegM Aumailley
Mar 18, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela F BradyFransiska Malfait
Sep 1, 1989·American Journal of Medical Genetics·P H Byers
Dec 1, 1991·Pediatric Dermatology·P A Hogan, B R Krafchik
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Feb 1, 1990·The Journal of Dermatology·T Krieg, M Aumailley
Jul 1, 1987·Metabolism: Clinical and Experimental·P P DembureL J Elsas

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