Genetic and Therapeutic ASPECTS of Imperfect Osteogenesis
Name: MARCOS VINÍCIUS DORNELAS DE MORAES
Publication date: 20/12/2017
Advisor:
Name |
Role |
|---|---|
| FLAVIA DE PAULA (M/D) | Advisor * |
Examining board:
| Name |
Role |
|---|---|
| FLAVIA DE PAULA (M/D) | Advisor * |
| IURI DRUMOND LOURO (M/D) | Internal Examiner * |
| MARCO CESAR CUNEGUNDES GUIMARÃES | Internal Examiner * |
| MARIA DO CARMO PIMENTEL BATITUCCI | External Examiner * |
Summary: Osteogenesis imperfecta (OI) is a genetically heterogeneous hereditary disorder with an incidence of 1 in every 10-20,000 individuals born. It is characterized by deformities in connective tissue and bone fragility, which makes the individual with OI more susceptible to fractures, due to minimal trauma or non-traumatic impacts. In most cases the disease is inherited in an autosomal dominant (AD) form due to a mutation in heterozygosity in the COL1A1 or COL1A2 genes, which encode the collagen α1(I) and α2(I) chains of the collagen type I, one of the most important structural proteins of bones, skin and tendons. However, the number of reports of autosomal recessive mutations (RA) in new genes is increasing, and mutations in 14 genes directly related to the clinical expression of OI, including CRTAP, P3H1, PPIB, SERPINF1, SERPINH1, FKBP10, SP7 and WNT1, focus of this work. The use of bisphosphonates by intravenous administration has been the standard treatment in OI. The main benefits are the reduction of the number of fractures, increase of bone mass and reduction of chronic pain, which contributes to the control of the progression of the disease a significant improvement in the patients' quality of life.
