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Review

The Link between Aggrecan and Familial Osteochondritis Dissecans

by 1, 2, 1, 2,3,* and 1,3,*
1
Department of Surgery, Division of Orthopaedic Surgery, McGill University, Montreal, QC H3A 0G4, Canada
2
Shriners Hospital for Children (Canada), Montréal, QC H4A 0A9, Canada
3
Injury, Repair and Recovery Program, The Research Institute of McGill University Health Centre, Montreal, QC H4A 3J1, Canada
*
Authors to whom correspondence should be addressed.
Academic Editor: Antonio Scarano
Received: 9 March 2021 / Revised: 20 March 2021 / Accepted: 21 March 2021 / Published: 24 March 2021
Osteochondritis dissecans (OCD) is a chronic disease of the articular cartilage characterized by focal lesions of subchondral bone and overlaying cartilage. Through the growing number of reports describing the high prevalence of OCD in some families, the subcategory termed familial OCD (FOCD) was established. With the development of genetic approaches such as genome-wide association studies and sequencing, aggrecan (ACAN) has been identified as one of the genes of interest associated with FOCD. Aggrecan is a crucial protein for the preservation and function of cartilage. However, due to FOCD being characterized relatively recently, there is a paucity of literature on the subject. The purpose of this review is to explore the relationship between ACAN mutations and familial OCD as well as to explore current treatment options and avenues for future research. In vitro and animal studies have shown the importance of ACAN in the preservation of cartilage. However, the only human ACAN mutation related to OCD ever identified is a V2303M mutation in the G3 domain. Multiple treatments have been superficially explored, and some options such as growth hormone (GH) and gonadotrophin-releasing hormone agonists (GnRHa) show potential. Thus, further research on FOCD in needed to identify other ACAN mutations and determine optimal treatment modalities for this patient population. View Full-Text
Keywords: cartilage repair; osteochondritis dissecans; aggrecan; surgery; treatments; orthopaedics; mutations; novel treatments; disease modelling cartilage repair; osteochondritis dissecans; aggrecan; surgery; treatments; orthopaedics; mutations; novel treatments; disease modelling
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MDPI and ACS Style

Ozere, S.; Chergui, S.; Cooke, M.E.; Pauyo, T.; Rosenzweig, D.H. The Link between Aggrecan and Familial Osteochondritis Dissecans. Surgeries 2021, 2, 128-138. https://0-doi-org.brum.beds.ac.uk/10.3390/surgeries2020012

AMA Style

Ozere S, Chergui S, Cooke ME, Pauyo T, Rosenzweig DH. The Link between Aggrecan and Familial Osteochondritis Dissecans. Surgeries. 2021; 2(2):128-138. https://0-doi-org.brum.beds.ac.uk/10.3390/surgeries2020012

Chicago/Turabian Style

Ozere, Samantha, Sami Chergui, Megan E. Cooke, Thierry Pauyo, and Derek H. Rosenzweig 2021. "The Link between Aggrecan and Familial Osteochondritis Dissecans" Surgeries 2, no. 2: 128-138. https://0-doi-org.brum.beds.ac.uk/10.3390/surgeries2020012

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