Genetic Determinism of Primary Early-Onset Osteoarthritis

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• 作者：Juliette Aury-Landas¹ ; ² ; ^{juliette.aury-landas@unicaen.fr" class="auth_mail" title="E-mail the corresponding author} ; Christian Marcelli¹ ; ³ ; ⁴ ; ⁵ ; Sylvain Leclercq¹ ; ² ; ⁶ ; Karim Boumé ; diene¹ ; ² ; Catherine Baugé ; ¹ ; ² ; ^{catherine.bauge@unicaen.fr" class="auth_mail" title="E-mail the corresponding author}
• 关键词：early-onset osteoarthritis ; genetics ; mutation
• 刊名：Trends in Molecular Medicine
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：22
• 期：1
• 页码：38-52
• 全文大小：2214 K

文摘

Osteoarthritis (OA) is the most common joint disease worldwide. A minority of cases correspond to familial presentation characterized by early-onset forms which are genetically heterogeneous. This review brings a new point of view on the molecular basis of OA by focusing on gene mutations causing early-onset OA (EO-OA). Recently, thanks to whole-exome sequencing, a gain-of-function mutation in the TNFRSF11B gene was identified in two distant family members with EO-OA, opening new therapeutic perspectives for OA. Indeed, unraveling the molecular basis of rare Mendelian OA forms will improve our understanding of molecular processes involved in OA pathogenesis and will contribute to better patient diagnosis, management, and therapy.