Leading the Fight to treatand cure Tay-Sachs, Canavan and related diseases
Gangliosidosis-1 (GM-1) disease is caused by the absence or significantly reduced level of a vital
enzyme called beta-galactosidase (GLB1). Without GLB1, a fatty substance or lipid called GM-1
ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation, also called “
substrate,” causes progressive damage to the cells.
The Juvenile and Late Onset forms of GM-1 occur when the mutations allow the GLB1 enzyme to function a little bit. Just a small increase in GLB1 activity is enough to delay the onset and slow the progression of symptoms.
GM-1 is an
autosomal recessive genetic disorder. Both parents must be a carrier for children to be at risk. There is a 25% chance with each pregnancy the child will be affected.GM-1 ‘breeds true’ in a family. If one child is diagnosed with infantile GM-1 the other children are only at risk for the infantile form. One set of parents could not have children with both the infantile and juvenile forms of the disease.
gene that causes GM-1 is located on
chromosome 3, specifically 3p21.33.
Read more about inheritance.
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Biotechnology Info www.ncbi.nlm.nih.gov
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