Naslov
Osteogenesis imperfecta: current concepts

Autori
Primorac, Dragan ; Rowe, David ; Mottes, Monica ; Barišić, Ingeborg ; Antičević, Darko ; Mirandola, Stefania ; Gomez Lira, Macarena ; Kalajzić, Ivo ; Kušec, Vesna ; Glorieux, Francis

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
The Second European-American Intensive Course in Clinical and Forensic Genetics / Primorac, Dragan - Zagreb, 2001

Skup
2nd European-American Intensive Course in Clinical and Forensic Genetics

Mjesto i datum
Dubrovnik, Hrvatska, 03.09.2001. - 14.09.2001

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
osteogenesis imperfecta; collagen; dentinogenesis imperfecta; mutations; gene therapy
(osteogenesis imperfecta; collagen; dentinogenesis imperfecta; mutations; bisphosphonates)

Sažetak
Osteogenesis imperfecta (OI), or brittle bone disease is a heritable disorder characterized by increased bone fragility. Four different types are commonly distinguished that range from a mild condition (type I) to a lethal one (type II). Types III and IV are the severe forms surviving the neonatal period. In most cases, there is a reduction in the production of normal type I collagen or the synthesis of abnormal collagen as a result of mutations in the type I collagen genes. These "classic" forms of OI will be described in this paper in great detail. There are instances, however, where alterations in bone matrix compononents, other than type I collagen, are the basic abnormalities. Recently, three such discrete types have been identified by histomorphometric evaluation (types V and VI)and linkage analysis (Rhizomelic OI). They provide evidence for the as yet poorly understoodcomplexity of the phenotype-genotype correlation in OI. Here will also be discussed a bisphosphonates treatment as well as fracure management and surgical correction of deformities observed in the patients with OI. However, ulimately, strenghthening bone in OI will involve steps to correct the underlying genetic mutations that are responsible for this disorder. In this reviwe we will also give different genetic therapeutic approaches that have been tested either on OI cells or on available OI murine models.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

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