Search results
Results From The WOW.Com Content Network
GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Mutations in the GM2A gene cause AB variant. The GM2A gene provides instructions for making a protein called the GM2 activator.
The name ganglioside was first applied by the German scientist Ernst Klenk in 1942 to lipids newly isolated from ganglion cells of the brain. [1] More than 60 gangliosides are known, which differ from each other mainly in the position and number of NANA residues .
In organic chemistry, GM2 is a type of ganglioside. G refers to ganglioside, the M is for monosialic (as in it has one sialic acid), and 2 refers to the fact that it was the second monosialic ganglioside discovered. It is associated with GM2 gangliosidoses such as Tay–Sachs disease. [1]
This enzyme catalyses the formation of the gangliosides (i.e. sialic-acid-containing glycosphingolipids) GM2, GD2 and SM2 from GM3, GD3 and SM3, respectively. References [ edit ]
GM2A is a lipid transfer protein that stimulates the enzymatic processing of gangliosides, and also T-cell activation through lipid presentation. This protein binds molecules of ganglioside GM2, extracts them from membranes, and presents them to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3.
[35] [24] Brain ganglioside accretion occurs at an accelerated rate in the early years of life, coinciding with the most active period of myelination, axonal outgrowth, and synaptogenesis. [ 36 ] [ 37 ] Alongside the growth of brain size, total brain ganglioside concentration also increases 3-fold from early fetal development to 5 years of age.
GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. [6]
Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. [1] [2] These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, [1] and some oligosaccharides.