The cardiovascular manifestations of genetic disorders of collagen metabolism.
Current research in the biochemistry and molecular genetics of collagen metabolism has produced a sophisticated level of understanding of the mechanisms involved in the pathogenesis of a number of inherited diseases of connective tissue. Nowhere is this better exemplified than in the cardiovascular disorders associated with certain genetic disorders of collagen metabolism. For instance, the life-threatening vascular complications of Ehlers-Danlos syndrome IV, the Sack-Barabas type, appears to be related to a number of defects in the production of Type III procollagen. The large size of the collagen genes and the complexity of the biochemistry of collagen have not made research a simple task. Nevertheless, the location of certain genes is now known with a reasonable degree of accuracy and a few have been cloned in their entirety. The future investigation of these genetic mutations holds great excitement for those engaged in research in this fascinating field.
Thomas
I T
IT
Department of Pediatrics, University of Florida, Gainesville 32610.
Frias
J L
JL
D002318:Cardiovascular Diseases / Q000235:genetics*; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D006712:Homocystinuria / Q000235:genetics; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D009154:Mutation
D003094:Collagen