COL2A1 and Associated Diseases
Basic Information about COL2A1 Gene
As a protein-coding gene situated in the human chromosome 12q13, the COL2A1 (collagen type II alpha 1 chain) can offer directives on the generation of the pro-alpha1 (II) chain, which is an essential component of type II collagen. Type II collagen is composed of three identical pro-alpha1 (II) Chains twisted into a rope-like structure. As a member of the collagen family, the distribution of collagen type II is relatively concentrated in the human body. This characteristic of distribution is quite different from collagen types I and III, which are widely found throughout the body. Meanwhile, collagen type II is the main structural component of the cartilage, a connective tissue that converts to a large amount of the skeleton later. In addition, it also can be found in many other tissues including the sclera and joints. The different types of mutations in the COL2A1 gene may result in lots of serious diseases. Here are some typical disorders caused by those mutations.
Fig.1 Process of formation of mature type II collagen. (Zhang, 2020)
COL2A1 and Associated Diseases
- Achondrogenesis
To date, there were more than 18 mutations in the COL2A1 gene have been identified to be relevant to the occurrence of achondrogenesis. Those mutations can interrupt the generation of mature collagen type II in a variety of manners, which result in grievous achondrogenesis.
- Czech dysplasia
Czech dysplasia is caused by a specific COL2A1 gene mutation, which involves a replacement processing of different amino acids during the processing of the pro-alpha1(II) chain. This mutation can also prevent the regular synthesis of type II collagen. The clinical symptoms of this disease include short height, early-onset rheumatoid arthritis, cleft palate, and vision problems.
- Hypochondrogenesis
Hypochondrogenesis is a drastic disease closely related to different kinds of mutations in the COL2A1 gene. Those mutations may involve the missing pieces of the COL2A1 gene, alterations in functional regions that encode proteins, and substitution of different amino acids. All these changes can give rise to this disorder by preventing the generation of type II collagen in the human body.
- Kniest dysplasia
Over 20 mutations in the COL2A1 gene have been confirmed to be associated with Kniest dysplasia (Wenger, 2011). Clinical symptoms of this genetic disorder include deformed skeleton, short stature, and listening problems. Fortunately, this disease does not affect the development of Children’s intelligence.
- Legg-Calvé-Perthes disease (LCPD)
LCPD is another genetic disorder caused by mutations in the COL2A1 gene. It is a critical disorder that occurs in children and is characterized by loss of circulation to the femoral head, severe pain, and limping.
- Other disorders
Based on the current research data, mutations in the COL2A1 gene can also cause lots of other genetic disorders with great pain in the human body. Regrettably, the mechanism by which these mutations trigger those diseases remains unclear.
Fig. 2 COL2A1 variants and associated diseases. (Zhang, 2020)
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References
- Zhang, B.; et al. Integrated analysis of COL2A1 variant data and classification of type II collagenopathies. Clinical Genetics. 2020, 97(3): 383-395.
- Wenger, D.R.; Pandya, N.K. A Brief History of Legg-Calvé-Perthes Disease. Journal of Pediatric Orthopaedics. 2011, 31(2 Suppl): S130-6.
