Genetic Determinism of Primary Early-Onset Osteoarthritis

Trends Mol Med. 2016 Jan;22(1):38-52. doi: 10.1016/j.molmed.2015.11.006. Epub 2015 Dec 13.

Abstract

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.

Keywords: early-onset osteoarthritis; genetics; mutation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Age of Onset
  • Animals
  • Cartilage / metabolism
  • Collagen / genetics
  • Genetic Predisposition to Disease*
  • Humans
  • Mutation
  • Osteoarthritis / genetics*
  • Osteoprotegerin / genetics

Substances

  • Osteoprotegerin
  • TNFRSF11B protein, human
  • Collagen