Assign-3 disease genetic.docx - 1BIOCH110 Biochemistry and Society Assignment 3\u2013 Genetic Diseases(10 points Wilson\u2019s disease is caused by an

Assign-3 disease genetic.docx - 1BIOCH110 Biochemistry and...

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1BIOCH110 Biochemistry and Society Assignment 3– Genetic Diseases (10 points) Wilson’s disease is caused by an inherited autosomal recessive mutation, or change, in the ATP7B gene. In an autosomal recessive disease, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disease. If only one parent carries the mutated gene, the child will not get the disease. But the child may inherit one copy of the gene mutation. The child will become a “carrier” of the disease and can pass the gene mutation to the next generation. Genetic testing is used to identify changes in a patient’s genes. It can show whether a parent or child is a carrier of a mutated gene. Autosomal recessive diseases are typically not seen in every generation of an affected family.The protein that is affected by the mutation is known as ATP7B protein located in trans-Golgi network of liver and brain. It is a copper-transporting P-type ATPase which is encoded by the ATP7B gene. Its normal function is to balance the copper level in the body by excreting excess copper into bile and plasma.The symptoms of this disease vary depending on what organs of the body are affected. Wilson disease is already present at birth but the signs and symptoms of the disease do not appear until the copper builds up in the liver, the brain, or other organs of the body. This disease usually affect the liver, the central nervous system, or both Sometimes a person does not have symptoms
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