0
What else can I help you with?
What enzyme deficiency causes disease?
Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
What part of the cell is defective in pompe's disease and Tay-Sachs disease?
In Pompe's disease, the defect lies in the lysosomal enzyme alpha-glucosidase, which leads to the accumulation of glycogen in lysosomes. In Tay-Sachs disease, the defect is in the enzyme hexosaminidase A, which leads to the accumulation of GM2 gangliosides in lysosomes.
Defective in pompe's disease and tay-sachs disease?
Lysosomes are the organelles that become defective in these diseases.
What part of the cell is defective in pompe's disease and Tay Sachs disease?
Lysosomes
What are causes of tay Sachs?
Tay-Sachs is caused by a defective gene. Genes are located on chromosomes, and serve to direct specific development/processes within the body. The genetic defect in Tay-Sachs disease results in the lack of an enzyme called hexosaminidase A.
What cellular organelle is involved with tay-sachs disease?
Tay-Sachs is caused by a defective gene. Genes are located on chromosomes and serve to direct specific developments and processes within the body. The genetic defect in Tay-Sachs disease results in the lack of an enzyme called hexosaminidase A. Without this enzyme, gangliosides cannot be broken down. They build up within the brain, interfering with nerve functioning. Because Tay-Sachs is a recessive disorder, only people who receive two defective genes (one from the mother and one from the father) will actually have the disease. People who have only one defective gene and one normal gene are called carriers. They carry the defective gene and thus the possibility of passing the gene and/or the disease onto their offspring.
Is tay sachs disease a disease of codominance?
Yes Tay Sachs disease is a disease of codominance. If you have one defective form of the Hex-A gene, you will be able to function normally and will not have the disease. This is because you still create enough of the enzyme to function normally but it is only being produced at 50% the rate of someone with two normal Hex-A genes.
How often does Tay-Sachs disease occur?
The defective gene that causes Tay-Sachs disease is found in roughly 1 in 250 people in the general population.
What are diseases that can be caused by the lack of a functional gene for an enzyme?
Tay-Sachs disease
Can tay-sachs disease be detected by karyotyping?
Tay-Sach's has a defective gene on chromosme 15
What does the gene that cause tay sachs normally do?
The gene that causes Tay-Sachs disease normally provides instructions for making an enzyme called hexosaminidase A. This enzyme helps break down a fatty substance called GM2 ganglioside. Mutations in this gene lead to a deficiency in hexosaminidase A, causing the buildup of GM2 ganglioside in cells, which leads to the symptoms of Tay-Sachs disease.
How is Sandhoff disease different from Tay-Sachs?
In Tay-Sachs disease, a mutation that affects the alpha subunit of the enzyme causes a deficiency in HexA. Sandhoff disease is caused by mutations that affect the beta subunit, rendering both the HexA and HexB enzymes deficient.
