Tay-Sachs Disease
Tay-Sachs Disease
Tay-Sachs disease (TSD) is a rare, inherited neurodegenerative disorder caused by mutations in the HEXA gene on chromosome 15, which encodes the alpha subunit of the enzyme hexosaminidase A (HexA). This enzyme is essential for breaking down GM2 ganglioside, a fatty substance in nerve cells. Deficiency of HexA leads to the accumulation of GM2 ganglioside in the brain and spinal cord, causing progressive neuronal damage and death.
Genetics and Inheritance
- TSD follows an autosomal recessive inheritance pattern: both copies of the HEXA gene must be mutated for the disease to manifest.
- Carriers have one mutated and one normal gene copy and do not develop symptoms but can pass the mutation to their children.
- If both parents are carriers, each child has a 25% chance of having Tay-Sachs, 50% chance of being a carrier, and 25% chance of being unaffected.
- The disease is more common in certain populations, including Ashkenazi Jews, French Canadians, Cajuns, and Old Order Amish.
Symptoms
- Symptoms usually begin in infancy with developmental delay, muscle weakness, decreased motor skills, and exaggerated startle response.
- Progressive neurological decline leads to seizures, vision and hearing loss, paralysis, and ultimately death, typically by age 4–5 in infantile forms.
- Juvenile and adult-onset forms exist but are rarer and progress more slowly.
Diagnosis
- Clinical presentation and family history.
- Measurement of HexA enzyme activity in blood or tissue.
- Genetic testing to identify HEXA mutations.
Management
- Currently, no cure exists; treatment is supportive and symptomatic, including seizure control, nutritional support, and palliative care.
- Genetic counseling and carrier screening are important for at-risk populations to prevent disease transmission.
Consult with Our Team of Experts Now!
At DrStemCellsThailand (DRSCT)‘s Anti-Aging and Regenerative Medicine Center of Thailand, we emphasize comprehensive evaluations and personalized treatment plans of Cellular Therapy and Stem Cells for managing various health conditions. If you have questions about Tay-Sachs Disease or would like more information on our services, consult with our experts today!
Consult with Our Team of Experts Now!
References:
- “AAV gene therapy for Tay-Sachs disease” discusses intrathecal and thalamic delivery of AAVrh8 vectors encoding HEXA/HEXB, demonstrating safety and early efficacy in human trials (DOI: 10.1038/s41591-021-01664-4)1.
- “Towards gene therapy for Tay-Sachs disease” reviews AAV-based strategies to restore HexA activity, highlighting stabilized disease progression in clinical cases (DOI: 10.1038/s41576-022-00462-z)2.
- “Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing” reports adult-onset cases with progressive ataxia and neuropsychiatric symptoms, emphasizing genetic testing challenges (DOI: 10.1212/NXG.0000000000200205)3.
