Table of Contents
- 1 Is Tay-Sachs a gene mutation?
- 2 What kind of mutation is Tay-Sachs?
- 3 Who is prone to Tay-Sachs?
- 4 Where is Tay-Sachs disease most common?
- 5 Can people with Tay-Sachs disease have children?
- 6 What are the causes of Tay Sachs disease?
- 7 How does GM2 ganglioside cause Tay Sachs disease?
- 8 How is gene therapy used to treat lysosomal storage disorders?
Is Tay-Sachs a gene mutation?
Tay-Sachs disease is caused by a change (mutation) in the hexosaminidase subunit alpha (HEXA) gene. Genes provide the instructions for the basic structure of proteins, all of which that play a critical role in many functions and structure of the body.
What kind of mutation is Tay-Sachs?
Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15, which codes for a subunit of the hexosaminidase enzyme known as hexosaminidase A. It is inherited from a person’s parents in an autosomal recessive manner….
| Tay–Sachs disease | |
|---|---|
| Other names | GM2 gangliosidosis, hexosaminidase A deficiency |
How many mutations cause Tay-Sachs disease?
At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.
Who is prone to Tay-Sachs?
Risk factors for Tay-Sachs disease include having ancestors from: Eastern and Central European Jewish communities (Ashkenazi Jews) Certain French Canadian communities in Quebec. Old Order Amish community in Pennsylvania.
Where is Tay-Sachs disease most common?
Tay-Sachs disease is very rare in the general population. The genetic variants (also known as mutations) that cause this disease are more frequently found in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds.
What part of the body does Tay-Sachs affect?
Tay-Sachs disease affects the nerve cells in the brain and spinal cord.
Can people with Tay-Sachs disease have children?
Carriers of the Tay-Sachs gene changes can pass the changed gene to their children even though the carriers don’t have the disease. If both you and your partner are carriers, there is a 1-out-of-4 chance (25%) that any child you have will have Tay-Sachs disease.
What are the causes of Tay Sachs disease?
Tay-Sachs disease is caused by gene changes in the HEXA gene. People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes.
What are the mutations in the HEXA gene?
The lifespan varies from shortened to unaffected. Tay-Sachs disease is caused by mutations in the HEXA gene and inheritance is autosomal recessive. The HEXA gene gives the body instructions to make part of the beta-hexosaminidase A enzyme, which is needed to break down a substance called GM2 ganglioside.
How does GM2 ganglioside cause Tay Sachs disease?
As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms seen in Tay-Sachs disease.
How is gene therapy used to treat lysosomal storage disorders?
Gene therapy is also being studied as another possible approach to therapy for some lysosomal storage disorders. In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the production of active enzyme and prevent the development and progression of the disease in question.