The Influence of Gene Mutations on Bone and Teeth: Osteogenesis and Dentinogenesis Imperfecta
Journal Title: Journal of Clinical Medical Research
Osteogenesis Imperfecta (OI) are inherited disordesr generating skeletal fragility. It is caused by mutations in one of the two genes encoding type I collagen (COL-1A1, COL1A2). Four subtypes of OI has been identified: Classic non-deforming OI with blue sclerae (Type I), perinatally lethal OI (Type II), progressively deforming OI (Type III) and common variable OI with normal sclerae (Type IV). Type IV comprises patients with phenotype intermediate to types I and III. More recently, other types of OI (V-XV) have been reported. Although they phenotypically resemble to types I-IV, they are not associated to type I collagen mutations. Dentinogenesis Imperfecta (DI), associated or not with OI, was classified in five types: Dentin Dysplasia types I and II (DD1 and DD2) and Dentinogenesis Imperfecta (DGI-types I-III). Cleavage of DSPP gives rise to three molecules susceptible to mutations, respectively dentin sialoprotein (DSP), Dentin Glycoprotein (DGP) and Dentin Phosphoprotein (DPP). Pharmacological treatments contribute to reduce adverse effects of OI, whereas cells and genes therapies still need improvements.