Naslov
Molecular basis of osteogenesis imperfecta and future medical treatment

Autori
Boban, Ljubica ; Rod, Eduard ; Plečko, Mihovil ; Slišković, Ana Marija ; Korbler, Juraj ; Primorac, Dragan

Izvornik
Paediatria Croatica (1846-405X) 61 (2017), 3; 147-154

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, znanstveni

Ključne riječi
osteogenesis imperfecta ; type I collagen ; molecular genetics ; gene therapy ; stem cell

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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA