What is the function of GM2 ganglioside?
Normal Function The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is necessary for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord (central nervous system).
What produces GM2 ganglioside?
Tay-Sachs disease (TSD), a type of GM2-gangliosidosis, is a progressive neurodegenerative lysosomal storage disorder caused by mutations in the α subunit of the lysosomal β-hexosaminidase enzyme.
What are GM1 and GM2 gangliosides?
GM1 gangliosidosis has both central nervous system and systemic findings; while, GM2 gangliosidosis is restricted primarily to the central nervous system. Both disorders have autosomal recessive modes of inheritance and a continuum of clinical presentations from a severe infantile form to a milder, chronic adult form.
What is GM1 ganglioside?
GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear.
What are the physiological and medical significance of gangliosides?
Gangliosides are ubiquitously expressed throughout the body tissues and fluids, but they are particularly abundant in the brain and in the nervous system. They participate in the maintenance and repair of neuronal cells22, memory formation23 and synaptic transmission24.
What is the function of Cerebroside?
Glucocerebroside (also known as glucosylceramide) is a cerebroside in which the carbohydrate constituent is glucose. The latter is often found in non-neural tissues. In skin, it plays a part in enabling water permeability barrier function of the skin.
What type of molecule is GM2?
The hexosaminidases and GM2-A are glycoproteins that are synthesized in the endoplasmic reticulum (ER) lumen and processed in the Golgi. They are transported via the mannose-6-phosphate receptor to the lysosome.
What does GM2 mean?
GSM, or gm/2 stands for ‘Grams Per Square Meter’. This is the measurement of the paper weight, so a thicker paper will have a higher GSM. The type of document you are printing will have an impact on the media and media GSM you will want to use.
Is GM2 ganglioside a lipid?
A fatty substance or lipid that is part of normal metabolism, in Tay-Sachs and Sandhoff lack of enzyme function causes the GM2 gangliosides to accumulate which is toxic and eventually causes cell death. Tay-Sachs and Sandhoff are known collectively as GM2.
What does ganglioside mean?
Listen to pronunciation. (GANG-glee-oh-side) A complex molecule that contains both lipids (fats) and carbohydrates (sugars) and is found in the plasma (outer) membrane of many kinds of cells. Several different types of gangliosides have been identified.
Where is GM2 ganglioside found?
Ganglioside GM2 is abundant in cells of the central nervous system and accumulates within the lysosomes of neurons and macrophages.
What are the functions of Cerebrosides?
What is the clinical presentation of GM2 gangliosidosis?
GM2 Gangliosidosis: Clinical Presentation. Tay Sachs disease is caused by the excessive storage of GM2 gangliosides in lysosomes. Gangliosides are a class of glycosphingolipid that consist of a ceramide backbone with three or more sugars esterfied to the ceramide alpha carbon and that also contain N-acetyl-neuraminic acid (sialic acid).
How does GM2-gangliosidosis progress in HEXA−/-NEU3−/− mice?
GM2-gangliosidosis is characterized by acute neurodegeneration preceded by activated microglia expansion, macrophage, and astrocyte activation, along with the production of inflammatory mediators. However, the mechanism of disease progression in Hexa− / −Neu3− / − mice, relevant to neuroinflammation is poorly understood.
Does GM2 ganglioside activate the microglial/macrophage system in the brain?
Here, we demonstrated that an accumulation of GM2 ganglioside led to the activation of the microglial/macrophage system in the brain and retina of Hexa −/− Neu3 −/− mice, compared with that in age-matched WT, Hexa −/−, and Neu3 −/− mice.
Where is ganglioside GM2 found in the body?
Ganglioside GM2 is abundant in cells of the central nervous system and accumulates within the lysosomes of neurons and macrophages. Clinical features of Tay–Sachs disease include a cherry-red spot on the retina, blindness, and mental retardation.