Molecular Defects in Collagen
Authors: VICTOR A. MCKUSICK
Journal: Annals of Internal Medicine (1975)

Editorial Notes1 April 1975Molecular Defects in CollagenVICTOR A. MCKUSICK, M.D., F.A.C.P., F.R.C.P., GEORGE R. MARTIN, PH.D.VICTOR A. MCKUSICK, M.D., F.A.C.P., F.R.C.P.Search for more papers by this author, GEORGE R. MARTIN, PH.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-82-4-585 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptSeveral recent reports have described alterations in collagen metabolism in certain heritable diseases in man. These studies reflect the rapid increase in our understanding of the structure and synthesis of collagen, as well as technical advances that allow the characterization of the collagen present in small biopsies of tissue and in fibroblast cultures. So far, most of the defects identified are recessive traits involving enzymes that modify the primary structure of collagen, although defects in the synthesis of one or another of the genetically distinct tissue collagens (Table 1) are suspected. The most extensive studies have been done on patients...References1. MCKUSICK V: Heritable Disorders of Connective Tissue. 4th ed. St. Louis, C. V. Mosby Co., 1972 Google Scholar2. PINNELLKRANEKENZORA SSJ: A new heritable disorder of connective tissue with hydroxylysine-deficient collagen. N Engl J Med 286:1013-1020, 1972 CrossrefMedlineGoogle Scholar3. ELSASHOLLINSPINNELL LBS: Hydroxylysine-deficient collagen disease: effect of ascorbic acid (abstract). Am J Hum Genet 26:28, 1974 Google Scholar4. SUSSMANLICHTENSTEINNIGRA MJT: Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome. J Bone Joint Surg [Am] 56:1228-1234, 1974 CrossrefMedlineGoogle Scholar5. LICHTENSTEINMARTINKOHN JGL: Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science 182:298-300, 1973 CrossrefMedlineGoogle Scholar6. POPEMARTINLICHTENSTEIN FGJ: Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci USA. In press Google Scholar7. PENTTINENLICHTENSTEINMARTIN RJG: Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byDynamic Swan Neck Deformity in a Patient with Ehlers-Danlos SyndromeTwo Cases of Myocardial Infarction in Type 4 Ehlers-Danlos SyndromeOral manifestations of Ehlers-Danlos syndrome: report of casePresumed homozygous Ehlers-Danlos syndrome type I in a highly inbred kindredOrthodontic Treatment in Ehlers—Danlos SyndromePathobiochemie und Pathophysiologie des BindegewebesAn unusual connective tissue disease in mother and son: A “new” type of Ehlers-Danlos syndrome?Molecular Defects of Collagen Metabolism in the Ehlers-Danlos SyndromeOsteogenesis Imperfecta Tarda and Otosclerosis a Temporal Bone Histopathology ReportA new presumably autosomal recessive form of the Ehlers-Danlos syndromeSitus Inversus of The Disc in The Ehlers-Danlos Syndrome, Type IIICompendiumGlycoprotein Storage Diseases and the MucopolysaccharidosesPhysiology of Bone and its ControlInherited human collagen lysyl hydroxylase deficiency: Ascorbic acid responseUterine leiomyoma with hemangiopericytomatous foci: Histogenetic implicationsAlterations in the Metabolism of Glycosaminoglycans and CollagenSimplified assay for lysyl oxidase activityHydroxyproline contents and prolyl hydroxylase activities in lungs of rats exposed to low levels of ozoneTranslation of collagen messenger RNA in a cell-free system derived from wheat germ 1 April 1975Volume 82, Issue 4Page: 585-586KeywordsBiopsyCollagen diseasesEnzymesFibroblasts Issue Published: 1 April 1975 PDF downloadLoading ...