@entity6926 ( @entity6926 ) is a result of heterozygous mutations in the @entity13239 or @entity4173 genes, encoding @entity4173 chains. Here we described the molecular and biochemical defects detected in a case of severe @entity18456 . Cultured skin fibroblasts from the proband produced both normal and mutant type I collagen which was secreted into the medium. The mutation site was localized in alpha 1(I)-CB3 by CNBr cleavage of collagen chains. Subsequent reverse transcription-PCR amplification and direct sequencing of single-stranded PCR product led to identification of G to A transition in the @entity13239 gene, resulting in @entity70320 substitution in the a1 chain of type I collagen. The new mutation conforms to the chain-specific non-lethal microdomain of Gly to Ser substitutions in the genotype-phenotype map. We have found that biosynthesis of collagen was increased in @entity6926 cells to about 160% of the control value. However, the amount of collagen deposed to the insoluble matrix was decreased as compared to the control. This suggests increased degradation of collagen, since the collagenolytic activity of @entity6926 cells was increased. Furthermore, the activity of @entity17302 , which is a marker of collagen turnover, was increased in @entity6926 cells. In regulation of activity of the enzyme are involved beta1 integrin and insulin-like growth factor (IGF) receptors. Western immunoblot analysis showed that the expressions of both receptors were markedly increased in @entity6926 cells. These results suggest that increase in activity of @entity17302 can be associated with increase in intensity of collagen metabolism in @entity18456 @entity1 with identified new @entity70320 mutation.

Gly511 to Ser substitution in the XXXX gene in osteogenesis imperfecta type III @entity1 with increased turnover of collagen.

@entity1 :: ('9606', 'Species') :: ['patient'] @entity4173 :: ('1278', 'Gene') :: ['type I procollagen', 'COL1A2'] @entity13239 :: ('1277', 'Gene') :: ['COL1A1'] @entity18456 :: ('MESH:C536044', 'Disease') :: ['type III OI'] @entity17302 :: ('5184', 'Gene') :: ['prolidase'] @entity70320 :: ('p|SUB|G|511|S', 'ProteinMutation') :: ['Gly511Ser', 'G511S'] @entity6926 :: ('MESH:D010013', 'Disease') :: ['OI', 'Osteogenesis imperfecta']
@entity13239 :: (1277,Gene) :: ['COL1A1']
