Abstract
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.
Highlights
Published: 24 March 2021Articular cartilage is an avascular connective tissue that covers bony surfaces in diarthrodial joints [1,2,3,4]
It has two main roles: to reduce friction between articular surfaces and to transfer loads to the underlying subchondral bone. These roles are facilitated by the extracellular matrix (ECM), which is composed of collagen type II and proteoglycans secreted by chondrocytes, the sole cell type in cartilage [3]
This review aims to explore the relationship between ACAN mutations and familial they relate to the treatment of
Summary
Articular cartilage is an avascular connective tissue that covers bony surfaces in diarthrodial joints [1,2,3,4]. The genetic etiology of FOCD is yet to be fully understood, as is the role it plays in the larger picture of OCD, but recent studies have identified specific genes with causative mutations. For OCD, there is a scarcity of literature on the phenotypical manifestations of ACAN there is very little research on the treatment of patients with FOCD due to its rarity. The pathway relating ACAN to FOCD is still poorly understood, tients treated inguidelines the same manner as any other OCD lesion without andare no generally specific treatment have been established. Treated in the same manner as any other OCD lesion without addressing the underlying Thisofreview aims condition, to explore leaving the relationship between cause the genetic patients at risk of ACAN further mutations lesions. We explore the potential for future research and how it may help to better understand other orthopedic conditions
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