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Pathway Description
G(M2)-Gangliosidosis: Variant B, Tay-Sachs Disease
Homo sapiens
Disease Pathway
GM2 gangliosidosis varient B or Tay-Sachs disease(TSD) is a neurodegenerative disorder which causes death in infantiles by age 5. Symptoms of TSD are present within 6 months of birth and include lack of motor development, mental retardation, seizures, and ultimately death. TSD is caused by the accumulation of GM2 gangliosides. Hexosaminadase A is the enzyme responsible for the degradation of GM2 gangliosides. It is a heterodimer made an alpha and beta subunit. The deficiency of this enzyme leads to the accumulation of GM2 gangliosides in neuronal lysosomes, eventually leading to cell death
References
G(M2)-Gangliosidosis: Variant B, Tay-Sachs Disease References
[Metagen: G(M2)-GANGLIOSIDOSIS: VARIANT B, TAY-SACHS DISEASE](http://metagene.de/program/d.prg?id_d=305)
[OMIM: 272800](http://omim.org/entry/272800})
[NIH](http://ghr.nlm.nih.gov/condition/tay-sachs-disease)
Gravel RA, Triggs-Raine BL, Mahuran DJ: Biochemistry and genetics of Tay-Sachs disease. Can J Neurol Sci. 1991 Aug;18(3 Suppl):419-23.
Pubmed: 1834320
Lawson CA, Martin DR: Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet. 2016 Jul 20;9:111-20. doi: 10.2147/TACG.S85354. eCollection 2016.
Pubmed: 27499644
Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN: Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol. 2003 Apr 11;327(5):1093-109. doi: 10.1016/s0022-2836(03)00216-x.
Pubmed: 12662933
Daroff RB, Aminoff MJ. Encyclopedia of the Neurological Sciences. Academic Press; 2014.
Rosenberg RN, Rosenberg RN, Pascual JM. Rosenbergs molecular and genetic basis of neurological and psychiatric disease. London, England: Academic Press; 2015
Glycosphingolipid Biosynthesis - Ganglio Series References
Schnaar RL, Kinoshita T. Glycosphingolipids. 2017. In: Varki A, Cummings RD, Esko JD, et al., editors. Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017. Chapter 11. Available from: https://www.ncbi.nlm.nih.gov/books/NBK453016/ doi: 10.1101/glycobiology.3e.011
D'Angelo G, Capasso S, Sticco L, Russo D: Glycosphingolipids: synthesis and functions. FEBS J. 2013 Dec;280(24):6338-53. doi: 10.1111/febs.12559. Epub 2013 Oct 25.
Pubmed: 24165035
Groux-Degroote S, Guerardel Y, Delannoy P: Gangliosides: Structures, Biosynthesis, Analysis, and Roles in Cancer. Chembiochem. 2017 Jul 4;18(13):1146-1154. doi: 10.1002/cbic.201600705. Epub 2017 Apr 24.
Pubmed: 28295942
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