Tay Sachs Disease Disease - 1604 Words

The case study stated above depicts a disease called Tay Sachs disease. This rare inherited disease involves a progressive destroying of nerve cells in the brain and spinal cord. The most common form of Tay Sachs disease becomes apparent in infancy (Goldberg). The major symptoms of this disease are lipid accumulation in brain cells, mental deficiencies, blindness, and death in childhood. Tay Sachs is commonly found in Jews from central Europe and there is a 1 in 3500 chance of it occurring. Other places where the mutations are common are in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana (Goldberg). The general prognosis is that even with the best of care,†¦show more content†¦Nitrogenous bases can either be A, G, C, or T. These letters are significant because when they are put into certain orders, form different instructions and form different sets of rules. A stands for adenine, G stands fo r guanine, C stands for cytosine, and T stands for thymine. All of these nucleotides make up the double helix that is the main structure of DNA. A mutation is a natural process that changes and substitutes a DNA’s sequence of codons and bases. The order of the codons is crucial because, as stated above, directly relate to the instructions that are written for specific parts of the human. The most common form of a mutation is a single base being substituted for another. But mutations are not always negative. Mutation generates new variations that can give an individual a survival advantage (Health Sciences). A healthy gene is different from a mutated gene because a healthy gene has information that fits in the specific human body. A mutated gene is a gene that has information that is distorted, and will contribute differently during the process if creating a human. As an example, during protein synthesis, there can be point mutations, which leads to deformed red blood cells in sickle cell disease. In Tay Sachs disease, the mutated gene leads to raised toxic levels in the spinal cord and the brain (Health Sciences). Overall, the idea of the structure of DNA and the idea of mutations help to explain genetic disorders because both are involved in making