title: Phenotype variability in a daughter and father with mild osteogenesis imperfecta correlated with collagen and prolidase levels in cultured skin fibroblasts.
abstract: Studies of collagen biosynthesis and prolidase activity were performed on cultured skin fibroblasts obtained from a female patient and her father, who displayed variable phenotypes of mild osteogenesis imperfecta (OI). For comparison, the same studies were also performed on age-matched controls. Biosynthesis of collagen in fibroblasts of the less affected father was reduced to approximately 50% of control levels, whereas in cells of the more severely affected daughter, it was decreased to about 20% of control levels. Furthermore, the decrease in collagen synthesis in OI fibroblasts was accompanied by a parallel decrease in prolidase activity and expression of beta1 integrin and insulin-like growth factor-I (IGF-I) receptors recovered from the cells. Therefore, prolidase, as well as IGF-I and beta1 integrin receptors involved in collagen metabolism regulation, may represent important factors influencing OI phenotype.
authors.affiliation: Department of Medical Chemistry, Medical University of Bialystok, 15-274 Bialystok 8, Poland. angajko@hotmail.com
authors.forename: Anna
authors.initials: A
authors.lastname: Galicka
authors.forename: Arkadiusz
authors.initials: A
authors.lastname: Surazyński
authors.forename: Sławomir
authors.initials: S
authors.lastname: Wołczyński
authors.forename: Jerzy
authors.initials: J
authors.lastname: Pałka
authors.forename: Janusz
authors.initials: J
authors.lastname: Popko
authors.forename: Andrzej
authors.initials: A
authors.lastname: Gindzieński
mesh_terms: D000293:Adolescent; D002478:Cells, Cultured; D003094:Collagen / Q000378:metabolism*; D004150:Dipeptidases / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000378:metabolism* / Q000473:pathology; D010641:Phenotype; D012867:Skin / Q000378:metabolism*
chemical_list: D003094:Collagen; D004150:Dipeptidases; C022449:proline dipeptidase