Lysosomal Storage Disease : Tay Sachs

Summary

Tay-Sachs Disease (TSD) is a severe, autosomal recessive genetic disorder that primarily affects the central nervous system (CNS) by causing the destruction of nerve cells. As a form of lysosomal storage disease, TSD is caused by mutations in the HEXA gene, which encodes the enzyme hexosaminidase A. This enzyme is crucial for breaking down fatty substances in the body, specifically gangliosides, within the CNS. When HEXA is deficient due to mutations, toxic levels of gangliosides accumulate, leading to progressive neurological damage. TSD manifests in three forms: infantile, juvenile, and adult-onset, with the infantile form being the most common and severe, typically resulting in death by age four. Diagnosis of TSD can be made through genetic testing, prenatal screening, and enzyme assays. While there is currently no cure, ongoing research explores potential treatments such as gene therapy, enzyme replacement therapy, and substrate reduction therapy. Gene therapy, which aims to introduce functional copies of the HEXA gene into patients' cells, has shown promise in early clinical trials, offering hope for mitigating disease progression. Despite these advances, challenges such as the blood-brain barrier and the high cost of treatment remain. Future research is focused on improving treatment efficacy, accessibility, and affordability, with the ultimate goal of developing a cure for this devastating disorder.

Increasing toxicity in the central nervous system damages the nerve cells (Figure representation created by the author: Diksha Dinesh Kumar)

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Impact Statement

My name is Diksha Dinesh Kumar and I am a sophomore at Edison High School. I had the opportunity to dive into the world of genetics through this comprehensive course. I gained a deep understanding of protein biology and DNA sequencing, as well as hands-on experience with databases like NCBI, InterPro, UniProt, OMIM and other tools to understand the mutated HEXA gene. Based on the knowledge I acquired from this course I researched about Tay-Sachs disease (TSD), an autosomal recessive genetic disorder that affects the central nervous system. I explored potential treatments, including gene therapy and pharmacological chaperones, and how they could potentially combat TSD. This program has been instrumental in broadening my research skills and knowledge, and I'm thankful for the experience.

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_By: Diksha Dinesh Kumar_

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