Tay-Sachs Disease
As an autosomal recessive neurodegenerative disorder, Tay-Sachs disease manifests in several distinct forms, each differing in severity and onset time. Our company is committed to promoting the development of rare disease diagnostics and therapeutics and providing one-stop comprehensive services with professional talents and advanced technology.
Overview of Tay-Sachs Disease
Tay-Sachs disease is a rare genetic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. The hexosaminidase A (HEXA) gene mutation underpins this debilitating condition, which occurs at a rate of approximately one in 100,000 live births, underscoring its rarity and complexity. Typically emerging in infancy or early childhood, the disease swiftly progresses, inflicting profound neurological deficits such as motor dysfunction, visual impairment, and auditory loss.
Fig.1 GM2 ganglioside and HEXA structure of GM2 ganglioside. (Picache, J. A., et al., 2022)Pathogenesis of Tay-Sachs Disease
The HEXA gene plays a pivotal role in producing an essential enzyme known as HEXA, crucial for the breakdown of GM2 ganglioside. In Tay-Sachs disease individuals, the deficiency or absence of this enzyme leads to the accumulation of GM2 ganglioside within nerve cells. The excessive buildup of this fatty substance disrupts the normal functioning of cells, instigating their eventual demise and giving rise to the distinct neurological manifestations of the disease.
Fig.2 The schematic diagram of HEXA gene structure. (Sheth, J., et al., 2022)
Genetic Testing
The definitive diagnosis of Tay-Sachs disease is usually confirmed through genetic testing. This involves analyzing the HEXA gene, which provides instructions for producing the Hex-A enzyme.
Enzyme Assay
Enzyme assay test may be performed to measure the activity of Hex-A in blood samples or other tissues. Individuals with Tay-Sachs disease typically have significantly reduced or absent Hex-A activity.
Therapeutics Development of Tay-Sachs Disease
| Therapies | Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Enzyme Replacement Therapy | Glucocerebrosidase | Break down the accumulated GM2 ganglioside | β-glucosidase | Approved |
| Imiglucerase | Break down the accumulated GM2 ganglioside | β-glucosidase | Approved | |
| Substrate Reduction Therapy | Miglustat | An immunosugar inhibitor of glucosylceramide synthase | Glucosylceramide synthase | Approved |
| Cell Therapy | Hematopoietic Stem Cell Transplantation (HSCT) | Increase HexA activity | / | Clinical trials |
| Gene Therapy | AAV vectors | Reduce the expression of GM2 | GM2 | Preclinical research |
| CRISPR/Cas9 | Targeted correction of the mutated HEXA gene | HEXA gene | Preclinical research |
Our Services
Our company specialists are highly qualified and experienced in diagnosing and treating rare diseases. We are committed to conducting research and developing animal models and innovative therapeutic for rare diseases, which allows us to stay at the forefront of advances in the field of rare diseases like Tay-Sachs disease.
Platforms of Therapy Development
Animal Models of Tay-Sachs Disease
Animal models have played a crucial role in understanding the pathogenesis of Tay-Sachs disease and in the development of potential therapeutics. We provide a variety of Tay-Sachs disease animal models to deepen your understanding of this disease and work towards transformative breakthroughs in the field of rare disease research.
Genetically engineered animal models of Tay-Sachs disease by introducing the genetic mutations to mimic pathological features observed in Tay-Sachs disease individuals.
Optional Models: Hexatm1Grv model; Gm2atm1Rlp model, etc.
Why Choose Us
By providing a diverse range of services, including pharmacokinetics analysis and drug safety evaluation, we aim to facilitate groundbreaking advancements in the field of rare disease diagnostics and therapeutics.
If you are a researcher seeking innovative solutions and expert services to further your studies, we invite you to reach out to us for more information on how we can support your research endeavors.
References
- Picache, Jaqueline A et al. "Therapeutic Strategies for Tay-Sachs Disease." Frontiers in pharmacology 13 (2022): 906647.
- Sheth, Jayesh et al. "Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors." Annals of Indian Academy of Neurology 25.3 (2022): 502-505.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.