Collagen - Diseases

Diseases

One thousand mutations have been identified in twelve out of more than twenty types of collagen. These mutations can lead to various diseases at the tissue level.

Osteogenesis imperfecta - Caused by a mutation in type 1 collagen, dominant autosomal disorder, results in weak bones and irregular connective tissue, some cases can be mild while others can be lethal, mild cases have lowered levels of collagen type 1 while severe cases have structural defects in collagen.

Chondrodysplasias - Skeletal disorder believed to be caused by a mutation in type 2 collagen, further research is being conducted to confirm this.

Ehler-Danlos Syndrome - Ten different types of this disorder which lead to deformities in connective tissue, some types can be lethal that lead to the rupture of arteries, each syndrome is caused by a different mutation, for example type four of this disorder is caused by a mutation in collagen type 3.

Alport syndrome - Can be passed on genetically, both an autosomal dominant and autosomal recessive disorder, sufferers have problems with their kidneys and eyes, loss of hearing can also develop in during the childhood or adolescent years.

Osteoporosis - Not inherited genetically, brought on with age, associated with reduced levels of collagen in the skin and bones, growth hormone injections are being researched as a possible treatment to counteract any loss of collagen.

Knobloch syndrome - Caused by a mutation in the collagen XVIII gene, patients present with protrusion of the brain tissue and degeneration of the retina, an individual who has family members suffering from the disorder are at an increased risk of developing it themselves as there is a hereditary link.