mucopoliszaccharidózisok

Mucopolysaccharides, also known as glycosaminoglycans (GAGs), are long, unbranched polysaccharides made up of repeating disaccharide units. These disaccharides consist of a uronic acid (either glucuronic acid or iduronic acid) and a hexosamine (either glucosamine orgalactosamine). The specific combination of these units and the type of linkages between them determine the identity of the mucopolysaccharide.

The primary function of mucopolysaccharides is structural. They are key components of the extracellular matrix, providing tensile strength and elasticity to connective tissues. They bind water, forming a gel-like substance that lubricates joints, acts as a shock absorber, and helps maintain the shape and turgor of cells and tissues. They are also involved in cell signaling, cell adhesion, and the regulation of various biological processes.

Examples of common mucopolysaccharides include hyaluronic acid, chondroitin sulfate, dermatan sulfate, keratan sulfate, and heparin. Hyaluronic acid is found in synovial fluid, connective tissues, and skin, contributing to lubrication and hydration. Chondroitin sulfate and dermatan sulfate are abundant in cartilage, bone, and skin, providing structural support. Keratan sulfate is found in cartilage and the cornea. Heparin, a highly sulfated GAG, is a potent anticoagulant.

Disorders affecting mucopolysaccharide metabolism, known as mucopolysaccharidoses, are a group of rare genetic diseases caused by deficiencies in specific enzymes required for their breakdown. This leads to the accumulation of undegraded GAGs within cells, resulting in progressive cellular damage and a wide range of physical and developmental problems.