I just read an article regarding these diseases. Furthurmore, on Wikepedia, it is said commonly inherited through parents of carrier genes, through one or more groups of Jewish People and/or French Canadian.
Well that is all it said. Please tell me more about the disease. I have never heard of this in my entire life. When people say depression, ADHD, alcoholism, etc., then I would know. But this is too far from my knowledge. Please educate me. lol. Also please spank it onto the answer. lol. Tay Sachs is particularly common amongst ASHKENAZI Jews, not just any particular Jewish group. If you were Ashkenazi, you'd know...
Tay Sachs is a condition which affects very young children and infants. It is marked by normal development for the first year or two, followed by "reverse development" in which the child can no longer do the same things they once were able to do. For instance, if the child could crawl and stand with assistance at age 12 months, then can no longer crawl at age 15 months... that is what is called "loss of a developmental milestone." Eventually children with Tay-Sachs become comatose. Tay-Sachs is invariably fatal and most children with it die before age 5 yrs. The cause of Tay Sachs is a defective enzyme within the neurons of the brain. These neurons are unable to break down a particular molecule that people WITH the enzyme can break down. The molecule builds up, causes the neurons to expand, and eventually causes neuronal death: progressive brain damage until there is literally, nothing left except for the waste product that can't be broken down.
Tay Sachs is inherrited in an autosomal recessive pattern. That means two people who "carry" the disease - but are not affected by it - would have to reproduce in order for a child to be born with it. Even then, the probability of having a normal baby without the condition is 3/4! Since children with Tay-Sachs never reach reproductive age, they cannot pass on the disease to offspring. Only parents who are carriers can pass it on - or in VERY rare instances, people who develop new mutations in the gene encoding the particular enzyme in their gametes (sperm or eggs). The highest prevalence of carriers of the Tay-Sachs mutation are in the Ashkenazi Jewish population.
See the link below for info on Gaucher. What is Tay-Sachs Disease?
Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops.
Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise. A much rarer form of the disorder occurs in patients in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. Persons with Tay-Sachs also have "cherry-red" spots in their eyes. The incidence of Tay-Sachs is particularly high among people of Eastern European and Askhenazi Jewish descent. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.
Is there any treatment?
Presently there is no treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.
What is the prognosis?
Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Tay-Sachs disease in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country. It is associated with the genomes you mention. Here is a site that can help clear the air. |
