What are the possible causes of Tay-Sachs?

Tay-Sachs disease is caused by genetic mutation of the 15th chromosome, which results in a lack of critical enzyme, hexosaminidase and, necessary for the metabolism of fatty acids. In people with this condition, oily compounds accumulate in the body and cause neurological problems such as blindness, seizures and disabilities. The causes of Tay-Sachs were the subject of an extensive study, and this was one of the first genetic diseases to be studied in order to learn more about it and develop programs for treatment and prevention. People with Tay-Sachs' disease must inherit two copies of a defective gene, one of each parent and the presentation of the disease may vary depending on the exact nature of the mutation. The causes of Tay-Sachs may include a family history of the disease and heritage of mutation or spontaneous mutation that creates a new carrier.

thpopulation Ree have an increased risk of this disease and the study of these groups provided more information about the causes of Tay-Sachs. Jews Ashkenazi and Lousiana Cajuns are more likely toThe number of copies of mutation and the French Canadians have a slightly different mutation. Historically, some scientists have theorized that contact with the Jewish community was the cause of mutations in the Cajun and French Canadian community, but the genetic analysis refuted it and suggests that the causes of Tay-Sachs are probably the result of a handful of independent "founding couples" who developed a mutation.

Tay-Sachs' disease and other recessive genetic conditions will appear more often in tight populations. Members of the community may not marry outside and harmful genes focus on the population. The only pair with carriers can pass the condition to their offspring who take them with them, when they connect, create an increased risk when genes pass through more generations. In the Jewish community, testing of programs that help people determine whether carriers are before marriage were an important part of prevention. Individual pairs can have tests to see if they are noSič, and fetal diagnostics is also available.

, knowing about the genetic nature of the causes of Tay-Sachs, scientists can focus on risking risks to have a child with the condition and develop treatment to deal with the lack of enzyme in people with this mutation. The original reason for proliferation of genes may not be known, although scientists have submitted theories. It is possible that the mutation was attached to a beneficial mutation, as is the case with the anemia of the sickles, or that parents with children who died of Tay-Sachs' disease had more children to replace them, thereby ensuring that the genes remained in the population.