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Word Count: 608
Tay-Sachs Tay-Sachs disease is a genetic disorder that occurs in children This disease causes their central nervous system to breakdown which in turn is the basis for their death The disease is named for Warren Tay and Bernard Sachs Tay-Sachs disease is caused by the absence of an enzyme called Hexosamindase A which is referred to as Hex-A The lack of this enzyme causes many metabolic problems for its host because it is necessary for breaking down wastes within the brain The result of its absence is that it causes an increasing loss of coordination a progressive inability to swallow breathing difficulties blindness mentally retardation paralysis and finally death The enzyme known as Hex-A is extremely essential for a person to sustain life This is due to the fact that Hex-A is needed for the body to break down a fatty waste substance found in brain cells This fatty substance or lipid called GM2 ganglioside accumulates abnormally in cells especially in the nerve cells of the brain As wastes are constantly collected there is a progressive damage to the cells The destructive process begins in the fetus early in pregnancy although the disease is not clinically apparent until the child is several months old By the that time a child with the disease is three or four years old and the nervous system is so badly affected that life itself cannot be supported The information for the body to make the Hex A enzyme is contained in a gene which is found on chromosome number 15 There are two copies of chromosome number 15 in all the body cells and therefore two copies of the gene that codes for the enzyme necessary for correct brain function If that gene is changed or mutated which is what happens in the case of Tay-Sachs disease the information contained in the gene and therefore the child is impaired The genetic error which is present
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