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Science 19 October 1973:
Vol. 182. no. 4109, pp. 298 - 300
DOI: 10.1126/science.182.4109.298
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Articles

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

Jack R. Lichtenstein 1, George R. Martin 2, Leonard D. Kohn 3, Peter H. Byers 4, and Victor A. McKusick 5

1 Armed Forces Institute of Pathology, Washington, D.C. 20306
2 National Institute of Dental Research, Bethesda, Maryland 20014
3 National Institute of Arthritis, Metabolism, and Digestive Diseases, Bethesda, Maryland 20014
4 National Institute of Dental Research
5 Department of Medicine, Johns Hopkins Hospital, Baltimore, Maryland 21205

Three patients with a form of the Ehlers-Danlos syndrome, a generalized disorder of connective tissue, have detectable amounts of procollagen in extracts of their skin and tendon. The activity of procollagen peptidase, the enzyme that converts procollagen to collagen, is reduced in cultures of fibroblasts. The clinical manifestations of this syndrome may be related to impaired enzymatic conversion of procollagen to collagen. Cultures of skin fibroblasts from these patients have an increased rate of synthesis of collagenous protein (collagen and procollagen), possibly related to the inability of these cells to convert procollagen to collagen.


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