The marfan's syndrome. In vitro study of collagen metabolism in tissue specimens of the aorta.
Tissue specimen of the aorta was obtained from a patient with Marfan's syndrome after heart surgery. Media and adventitia were carefully separated and subsequently used for biochemical characterization. Aortas from an embryonic calf and from a human adult were used as internal controls. The data clearly indicated that an insufficient synthesis of type I collagen rather than a defect in the formation of cross-links may be the prime cause in this inherited connective tissue disorder. Such a disturbance in the regulation of the genes coding for the different collagen chains may explain the weakness and enhanced extensibility of the blood vessels finally resulting in an aneurysm.
D000629:Aminopropionitrile / Q000494:pharmacology; D001011:Aorta / Q000166:cytology / Q000378:metabolism*; D003094:Collagen / Q000096:biosynthesis / Q000378:metabolism*; D046508:Culture Techniques; D005799:Genes, Dominant; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics / Q000378:metabolism*
D000629:Aminopropionitrile; D003094:Collagen