Collagen is a naturally occurring protein in the body found in fibrous tissues and connective tissue. Collagen-related diseases can arise from genetic malformations and disruptions in collagen production. The "Journal of Pharmaceutical Sciences" notes that because of the abundance of collagen in the body, cellular malformation undoubtedly can affect differing systems, causing diseases of the central nervous system, musculoskeletal or cardiovascular system.
Osteogenesis Imperfecta
Osteogenesis imperfecta is a genetic disorder causing frequent fracture or breakage of bones. The Osteogenesis Imperfecta Foundation notes that abnormal collagen rods in bone are the culprits in altering the structure of normal bone resiliency. A mutation in the DNA of the genes responsible in creating collagen and collagen fibers prevents bone from strengthening to normal capacity. Essentially, in children with this disorder new production of collagen binds with mutated collagen fibers. The healthy collagen fibers are unable to regenerate because the mutated collagen continues to consume the bone. In addition, the mutated collagen also prevents osteoblasts, cells responsible in the formation of bone, from forming and dividing properly.
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a group of disorders impacting connective tissue of the skin, joints and blood vessel walls. The Mayo Clinic explains that genetic mutations disrupt the normal production of collagen, depleting the strength and elasticity of the connective tissues. Although this condition is rare, it is inherited through dominant gene transmission, which means a child has a 50 percent chance of inheriting the gene from a parent with the condition. Symptoms of this condition may include loose joints, premature osteoarthritis and bruising easily.
Scleroderma
Collagen-related problems impacting the immune system are referred to as collagen vascular disease. Scleroderma is a collagen vascular disease where too much collagen production and inflammation occurs. The University of Maryland Medical Center notes that abnormal connective tissue from excess collagen causes a decrease in bone density as well as malfunction of impacted body parts such as the lungs and esophagus. Collagen-related vascular diseases also cause symptoms such as fever, weakness and anemia, according to MedlinePlus.
Alport and Knobloch Syndrome
The "Journal of Pharmaceutical Sciences" indicates rare collagen related disorders such as Alport syndrome and Knobloch syndrome are also due to abnormal collagen development. Alport syndrome is characterized by kidney failure and damage to epithelium, which are cells that outline and protect the organs and glands. Knobloch syndrome impacts the eyes by causing degeneration of the retina, damaging the occipital bones and increasing the incidence of nearsightedness.
