Genetics
What type of inheritance pattern does Tay-Sachs disease follow?
Autosomal recessive
At what age do symptoms of infantile Tay-Sachs usually begin?
3 to 6 months
What test can identify if someone is a carrier of Tay-Sachs?
Carrier screening (enzyme assay or DNA test)
Is there a cure?
No
Which gene is mutated in Tay-Sachs disease?
HEXA gene
Name two common symptoms of Tay-Sachs disease.
Seizures, loss of motor skills, vision loss, increased startle response (any two)
What is the role of genetic counseling in Tay-Sachs prevention?
Advises couples on risks and reproductive options
Name one type of supportive treatment for Tay-Sachs patients.
Seizure control, physical therapy, nutritional support
What enzyme is deficient in Tay-Sachs disease?
Beta-hexosaminidase A
What is the typical life expectancy for infants diagnosed with Tay-Sachs?
3 to 5 years
Name one prenatal diagnostic method for Tay-Sachs.
Chorionic villus sampling (CVS) or amniocentesis
What experimental therapy aims to replace the missing enzyme?
Enzyme replacement therapy (ERT)
If both parents are carriers, what is the chance their child will have Tay-Sachs disease?
25%
Which nervous system cells are primarily affected in Tay-Sachs disease?
Neurons (nerve cells)
What reproductive technology can help prevent Tay-Sachs in offspring?
Preimplantation genetic diagnosis (PGD) with IVF
What is the goal of gene therapy in Tay-Sachs?
To introduce a functional HEXA gene
On which chromosome is the HEXA gene located?
Chromosome 15
What causes the neurological damage in Tay-Sachs disease?
Accumulation of GM2 gangliosides
Why is carrier screening especially important in Ashkenazi Jewish populations?
They have a higher carrier frequency (1 in 29)
Why is enzyme replacement therapy challenging for Tay-Sachs?
Because the enzyme cannot cross the blood-brain barrier