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Genetic Determinism of Primary Early-Onset Osteoarthritis.
Trends Mol Med. 2016 Jan; 22(1):38-52.TM

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.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Aury-Landas J
Normandie Université, 14032 Caen, France; Université de Caen Normandie (UNICAEN), EA4652 Microenvironnement Cellulaire et Pathologies (MILPAT), BIOCONNECT Team, 14032 Caen, France. Electronic address: juliette.aury-landas@unicaen.fr.
Marcelli C
Normandie Université, 14032 Caen, France; UNICAEN, COMETE, 14032 Caen, France; Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1075, COMETE, 14032 Caen, France; Centre Hospitalier Universitaire de Caen, Department of Rheumatology, 14000 Caen, France.
Leclercq S
Normandie Université, 14032 Caen, France; Université de Caen Normandie (UNICAEN), EA4652 Microenvironnement Cellulaire et Pathologies (MILPAT), BIOCONNECT Team, 14032 Caen, France; Service de Chirurgie Orthopédique, Clinique Saint-Martin, Caen, France.
Boumédiene K
Normandie Université, 14032 Caen, France; Université de Caen Normandie (UNICAEN), EA4652 Microenvironnement Cellulaire et Pathologies (MILPAT), BIOCONNECT Team, 14032 Caen, France.
Baugé C
Normandie Université, 14032 Caen, France; Université de Caen Normandie (UNICAEN), EA4652 Microenvironnement Cellulaire et Pathologies (MILPAT), BIOCONNECT Team, 14032 Caen, France. Electronic address: catherine.bauge@unicaen.fr.

MeSH

Age of OnsetAnimalsCartilageCollagenGenetic Predisposition to DiseaseHumansMutationOsteoarthritisOsteoprotegerin

Pub Type(s)

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

Language

eng

PubMed ID

26691295

Citation

Aury-Landas, Juliette, et al. "Genetic Determinism of Primary Early-Onset Osteoarthritis." Trends in Molecular Medicine, vol. 22, no. 1, 2016, pp. 38-52.
Aury-Landas J, Marcelli C, Leclercq S, et al. Genetic Determinism of Primary Early-Onset Osteoarthritis. Trends Mol Med. 2016;22(1):38-52.
Aury-Landas, J., Marcelli, C., Leclercq, S., Boumédiene, K., & Baugé, C. (2016). Genetic Determinism of Primary Early-Onset Osteoarthritis. Trends in Molecular Medicine, 22(1), 38-52. https://doi.org/10.1016/j.molmed.2015.11.006
Aury-Landas J, et al. Genetic Determinism of Primary Early-Onset Osteoarthritis. Trends Mol Med. 2016;22(1):38-52. PubMed PMID: 26691295.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic Determinism of Primary Early-Onset Osteoarthritis. AU - Aury-Landas,Juliette, AU - Marcelli,Christian, AU - Leclercq,Sylvain, AU - Boumédiene,Karim, AU - Baugé,Catherine, Y1 - 2015/12/13/ PY - 2015/10/19/received PY - 2015/11/13/revised PY - 2015/11/16/accepted PY - 2015/12/23/entrez PY - 2015/12/23/pubmed PY - 2016/10/1/medline KW - early-onset osteoarthritis KW - genetics KW - mutation SP - 38 EP - 52 JF - Trends in molecular medicine JO - Trends Mol Med VL - 22 IS - 1 N2 - 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. SN - 1471-499X UR - https://www.unboundmedicine.com/medline/citation/26691295/Genetic_Determinism_of_Primary_Early_Onset_Osteoarthritis_ DB - PRIME DP - Unbound Medicine ER -