Paediatria Croatica, Vol. 61 No. 3, 2017.
Pregledni rad
https://doi.org/10.13112/PC.2017.21
Molecular basis of osteogenesis imperfecta and future medical treatment
Ljubica Boban
; Klinika za dječje bolesti Zagreb
Eduard Rod
Mihovil Plečko
Ana Marija Slišković
Juraj Korbler
Dragan Primorac
Sažetak
Osteogenesis imperfecta (OI) or brittle bone disease is a metabolic bone disease characterized by bone fragility, low bone mass, and
increased rate of bone fractures and deformities. Clinical presentation in OI patients shows wide variability ranging from mild to severe
and lethal OI types. Advances in molecular biology and studies on animal OI models found at least 16 new genes involved in OI
pathogenesis. The majority of mutations are autosomal dominant aff ecting COL1A1 and COL1A2 genes responsible for collagen
synthesis. The remaining 10%-15% of mutations in OI are autosomal recessive and aff ect genes involved in various metabolic bone
processes. Progress in understanding bone metabolism and genetic engineering off ers new potential therapeutic opportunities that
are under diff erent stages of investigation.
Ključne riječi
osteogenesis imperfecta; type I collagen; molecular genetics; gene therapy; stem cell
Hrčak ID:
201172
URI
Datum izdavanja:
25.9.2017.
Posjeta: 1.705 *