Collagen and Collagen Disorders
Açelya YALOVAÇ *, N. Nuray ULUSU**^,o
* Hacettepe University, Faculty of Pharmacy, Department of Biochemistry, 06100 Ankara, Turkey
** Hacettepe University, Faculty of Medicine, Department of Biochemistry, 06100 Ankara, Turkey
 
^oCorresponding Author

Summary

Collagen has been studied extensively by a large number of research laboratories since the beginning of the 20th century. Collagens are the major fibrous glycoproteins present in the extracellular matrix and in connective tissue such as tendons, cartilage, the organic matrix of bone, and the cornea, and they maintain the strength of these tissues. Collagen has a triplehelical structure. This molecule consists of repeating unusual amino acids 35% glycine, 11% alanine, 21% proline, and hydroxyproline. The importance of collagens was clearly defined after the inherited collagen disorder studies. Mutations that alter folding of the triple helix result in identifiable genetic disorders, such as: osteogenesis imperfecta, Ehlers-Danlos syndromes, Alport syndrome, Bethlem myopathy, some subtypes of epidermolysis bullosa, Knobloch syndrome, some osteoporoses, arterial aneurysms, osteoarthrosis, and intervertebral disc diseases. The collagen family will be one of the most important research topics in future years because of its many important functions.

Key Words :
Collagen, osteogenesis imperfecta, Ehlers-Danlos syndrome, Alport syndrome, Bethlem myopathy