[Defective type I collagen in a woman patient with juvenile idiopathic scoliosis (author's transl)].
The molecular causes of idiopathic scoliosis have not yet been clarified to any appreciable extent and are probably heterogeneous. The occurrence of scolioses in congenital diseases of the connective tissue points to changes in connective tissue metabolism. Collagen is the most essential structural connective tissue component of bone. It was the aim of our investigations to examine the synthesis of collagen of Types I and II in order to identify a possible molecular defect. In the woman patient examined by the authors, a pathologically changed alpha-chain of the collagen of Type I was found as the probable cause of this particular case of idiopathic scoliosis.
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000378:metabolism*; D046508:Culture Techniques; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D012600:Scoliosis / Q000378:metabolism* / Q000601:surgery; D013904:Thoracic Vertebrae / Q000378:metabolism
D003094:Collagen
Defekt des Typ-I-Kollagens bei einer Patientin mit juveniler idiopathischer Skoliose.