Profilaksa DVT kod velikih ortopedskih operacija - Depol ...

20 - 22 September 2012, Opatija, Croatia
CURRENT CONCEPTS OF OSTEOGENESIS IMPERFECTA
Dragan Primorac, Penn State University, USA; University of Split, University of Osijek, Croatia
Osteogenesis imperfecta (OI) or brittle bone disease is a heritable disorder of connective tissue that is associated
with osteoporosis and variable amount of skeletal deformities. During the last years molecular concept of
OI changed from a single gene disorder to multigenes disorder. Dominant negative mutations including glycin
substitution mutations in COL1A1 or COL1A2 genes (the most common defect), helical splicing mutations (mainly
mutations within donor or acceptor of either gene has been associated with exon skipping) produce abnormalities
in the sequence of different regions of the type I collagen gene and result in expression of a mutant protein
that drastically affects the normal triple-helix configuration. On the other hand, null allelic mutations may result
in a 50% reduction of total collagen mRNA, creating a mild clinical phenotype of OI. Recent findings showed that
mutations on CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1 and SP7 are responsible for autosomal recessive OI while
dominant inheritance of OI is linked with mutations in COL1A1 or COL1A2 genes. Since bisphosphonates cannot
correct the primary cause of OI, and their long-term use and effectiveness are still uncertain, new treatment options
including mesenchymal stem cells and gene therapy are being developed by different group of scientists
and clinicians.
Oral
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