(The image above shows two neurons; one is a healthy neuron and the other a neuron affected by TSD. In the healthy neuron (top) lysosomes act as the waste processing center of the cell. In Tay-Sachs disease, genetic deficiencies hamper with lysosome enzymes that break down fatty cell products, which build up and destroy the cell.)
You might be asking yourself what exactly is Tay-Sachs disease? Well Tay-Sachs disease (TSD) is a fatal genetic (runs through the family) lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. This condition is caused by the absence of a vital enzyme, beta-hexosaminidase A.
Tay-Sachs disease occurs in infants and progressively damages the central nervous system as they age. A baby with TSD appears to develop normally for the first few months, but then there is a relentless deterioration of mental and physical abilities. The child gradually becomes blind, is unable to swallow, and has inefficient pulmonary function. Unfortunately, there is no cure or treatment for TSD and the average life expectancy is 3-5 years of age.
This condition is particularly high among people from Eastern European and Jewish descent. Patients and carriers of TSD can be identified by a receiving a blood test to measure beta-hexosaminidase A activity. In order to have an affected child, both parents must carry the mutated gene. In such instances, there is a 25% chance with each pregnancy that the child will be affected with Tay-Sachs disease.
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