keratanszulfát

Keratanszulfát is a glycosaminoglycan, a long unbranched polysaccharide. It is a major component of cartilage and connective tissue. Specifically, keratanszulfát is found in the cornea of the eye, tendons, ligaments, and bones. Unlike many other glycosaminoglycans, keratanszulfát does not contain uronic acid. Instead, it is composed of repeating disaccharide units of N-acetylglucosamine and galactose. These units are sulfated, typically at the sixth position of the glucosamine residue. The degree and pattern of sulfation can vary. Keratanszulfát plays a crucial role in maintaining the hydration and structural integrity of tissues. In the cornea, it is essential for transparency. Mutations in the genes responsible for the synthesis or degradation of keratanszulfát can lead to certain inherited diseases. For example, deficiencies in the enzymes involved in keratanszulfát metabolism are associated with skeletal dysplasias like pseudoachondroplasia and spondylocarpotarsal synostosis syndrome. These conditions often result in dwarfism and skeletal abnormalities. Research into keratanszulfát continues to explore its various functions and potential therapeutic applications.