Abstract

Lysosomal storage diseases, such as Tay Sachs and Sandhoff disease, result from genetic mutations and can cause severe neurodegeneration in the central nervous system [1]. Although these diseases are rare, with a prevalence of approximately 1 in 100,000 [2], patients may experience severe neurological impairment and early death (infantile/juvenile forms) or delayed cognitive and speech impairments, ataxia, and lower motor neuron disease (later-onset from) [1]. Current treatments are substrate reduction therapy or enzyme replacement treatments [3]. Both treatment options have shown limited efficacy and require further research for treatment of Tay Sachs and Sandhoff disease.

Researchers at McMaster University have discovered that a repurposed FDA-approved drug is an effective treatment against Sandhoff disease in mice models. Treated mice had an increased life span and reduced muscle atrophy compared to control.

Applications

• Treating Tay Sachs and Sandhoff disease.

Advantagess

• Targets a unique pathway compared to other therapeutic methods.
• Can be paired with additional substrate reduction drugs or enzyme replacement treatments

References

1. Sun, A., Chang, I. J., Lam, C., & Berry, G. T. (2021). Lysosomal Storage Disorders. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics (pp. 563-682). Academic Press.
2. Xiao C, Tifft C, Toro C. Sandhoff Disease. 2022 Apr 14. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK579484/
3. Solovyeva VV, Shaimardanova AA, Chulpanova DS, Kitaeva KV, Chakrabarti L and Rizvanov AA (2018) New Approaches to Tay-Sachs Disease Therapy. Front. Physiol. 9:1663. doi: 10.3389/fphys.2018.01663

Image obtained from: https://www.shutterstock.com/image-illustration/brain-neurons-lysosomal-storage-diseases-taysachs-2053861109