The Link between Aggrecan and Familial Osteochondritis Dissecans
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 es...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-03-01
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| Series: | Surgeries |
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| Online Access: | https://www.mdpi.com/2673-4095/2/2/12 |
| _version_ | 1797540151693410304 |
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| author | Samantha Ozere Sami Chergui Megan E. Cooke Thierry Pauyo Derek H. Rosenzweig |
| author_facet | Samantha Ozere Sami Chergui Megan E. Cooke Thierry Pauyo Derek H. Rosenzweig |
| author_sort | Samantha Ozere |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T12:56:56Z |
| format | Article |
| id | doaj.art-452ddf1c75334f80b61284a7afe7a490 |
| institution | Directory Open Access Journal |
| issn | 2673-4095 |
| language | English |
| last_indexed | 2024-03-10T12:56:56Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Surgeries |
| spelling | doaj.art-452ddf1c75334f80b61284a7afe7a4902023-11-21T11:50:13ZengMDPI AGSurgeries2673-40952021-03-012212813810.3390/surgeries2020012The Link between Aggrecan and Familial Osteochondritis DissecansSamantha Ozere0Sami Chergui1Megan E. Cooke2Thierry Pauyo3Derek H. Rosenzweig4Department of Surgery, Division of Orthopaedic Surgery, McGill University, Montreal, QC H3A 0G4, CanadaShriners Hospital for Children (Canada), Montréal, QC H4A 0A9, CanadaDepartment of Surgery, Division of Orthopaedic Surgery, McGill University, Montreal, QC H3A 0G4, CanadaShriners Hospital for Children (Canada), Montréal, QC H4A 0A9, CanadaDepartment of Surgery, Division of Orthopaedic Surgery, McGill University, Montreal, QC H3A 0G4, CanadaOsteochondritis 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.https://www.mdpi.com/2673-4095/2/2/12cartilage repairosteochondritis dissecansaggrecansurgerytreatmentsorthopaedics |
| spellingShingle | Samantha Ozere Sami Chergui Megan E. Cooke Thierry Pauyo Derek H. Rosenzweig The Link between Aggrecan and Familial Osteochondritis Dissecans Surgeries cartilage repair osteochondritis dissecans aggrecan surgery treatments orthopaedics |
| title | The Link between Aggrecan and Familial Osteochondritis Dissecans |
| title_full | The Link between Aggrecan and Familial Osteochondritis Dissecans |
| title_fullStr | The Link between Aggrecan and Familial Osteochondritis Dissecans |
| title_full_unstemmed | The Link between Aggrecan and Familial Osteochondritis Dissecans |
| title_short | The Link between Aggrecan and Familial Osteochondritis Dissecans |
| title_sort | link between aggrecan and familial osteochondritis dissecans |
| topic | cartilage repair osteochondritis dissecans aggrecan surgery treatments orthopaedics |
| url | https://www.mdpi.com/2673-4095/2/2/12 |
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