Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
Tay-Sachs Disease is also know as Hex-A deficiency. Therefore, the Hex-A enzyme is absent or deficient.
Hexosiminixdase-A
Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
Lysosomes are the organelles that become defective in these diseases.
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.
Lysosomes
Lysosomes
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.
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.
tay-sachs disease
Tay-Sachs disease
The defective gene that causes Tay-Sachs disease is found in roughly 1 in 250 people in the general population.
Tay-Sachs disease
Tay-Sach's has a defective gene on chromosme 15