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ba0001pp280 | Genetics | ECTS2013

Association between dentinogenesis imperfecta and mutations in COLIA1 and COLIA2 genes

Andersson Kristofer , Dahllof Goran , Astrom Eva , Rubin C-J , Kindmark A , Lindahl Katarina , Ljunggren Osten , Malmgren Barbro

Introduction: Dentinogenesis imperfecta (DI) is a common dental aberration in patients with osteogenesis imperfecta (OI). Mutations that cause abnormal collagen chains will cause more serious types of OI and it has been claimed that DI should be a marker for qualitative defected collagen. It has also been supposed that normal development of teeth may be more dependent on normal α2(I) than normal α1(I) chains which are encoded by COLIA2 and COLIA1 ge...

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ba0001pp492 | Other diseases of bone and mineral metabolism | ECTS2013

Allele dependent silencing of collagen type I using small interfering RNAs targeting 3′UTR indels – a novel therapeutic approach in osteogenesis imperfecta

Lindahl Katarina , Kindmark Andreas , Laxman Navya , Astrom Eva , Rubin Carl-Johan , Ljunggren Osten

Abstract: Osteogenesis imperfecta, also known as brittle bone disease, is a heterogeneous disorder of connective tissue generally caused by dominant mutations in the genes COL1A1 and COL1A2, encoding the α1 and α2 chains of type I (pro)collagen. Symptomatic patients are usually prescribed bisphosphonates, but this treatment is neither curative nor sufficient. A promising field is gene silencing through RNA interference. In this study, small interfering RN...

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Bone Abstracts

Association between dentinogenesis imperfecta and mutations in COLIA1 and COLIA2 genes

Allele dependent silencing of collagen type I using small interfering RNAs targeting 3′UTR indels – a novel therapeutic approach in osteogenesis imperfecta

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