SCIENCE

GANGLIOSIDOSES

GM1 Gangliosidosis is a lysosomal storage disorder caused by a mutation in the GLB1 gene.  Mutation in GLB1 lead to reduced activity of the lysosomal enzyme beta-galactosidase (bGal).  In GM1 gangliosidosis patients, bGal deficiency results in the accumulation of GM1 gangliosides (GM1).  GM1 gangliosidosis patients with the most severe bGal deficiency develop severe early onset neurological symptoms while milder bGal deficiency can lead to later onset neurological symptoms. 

GM2 ganglisosidosis is a group of lysosomal storage disorders caused by mutations in the HEXA or HEXB genes.  Tay-Sachs disease is a form of GM2 gangliosidosis caused by mutations in the HEXA gene and Sandhoff disease is caused by mutations in the HEXB gene.  Together HEXA and HEXB encode protein subunits of the beta-hexosaminidase enzyme.  Mutation in HEXA or HEXB lead to reduced activity of the lysosomal enzyme beta-hexosaminidase enzyme (bHex).  In GM2 gangliosidosis patients, bHex deficiency results in the accumulation of GM2 gangliosides (GM2).  GM2 gangliosidosis patients with the most severe bHex deficiency develop severe early onset neurological symptoms while milder bGal deficiency can lead to later neurological symptoms. 

AceLink is developing brain penetrant small molecule SRT that could be used to treat GM1 and GM2 gangliosidosis.  

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