Diana s Genetics -Review Paper Wilson's Disease Occurs in approximately 1 in 30,000 individuals, Wilson s disease is a relatively are disorder known for the over accumulation of copper in tissues. This copper metabolism disease is an autosomal recessive genetic disorder, meaning a patient must inherit a copy of mutated gene from both parent in order to be clinically symptomatic. The over accumulation of copper in the body often manifest as neurological or psychiatric symptoms, and liver disease. This is because the main site of copper accumulation is usually the liver and brain the gene responsible for the Wilson's disease would be the atp7B gene, located on the 13th chromosome Signs and symptoms Since the main site of copper accumulation is the brain and liver europsychiatric symptoms and liver disease are usually the main features that lead to diagnosis. Patients that develop liver disease usually present symptoms such as tiredness, fatigue, jaundice, loss of appetite, and abdominal swelling However, symptoms of liver disease can be considerably subtle at times and could be often ignored. Thus, about 5% patients do not realize the disease until an acute liver failure On the other hand accumulation of copper in the brain will lead to neurological and psychiatric presentations. Neurological symptoms may include tremors, poor coordination, and cognitive disorders, such as poor memory, judgment, and reasoning. While, psychiatric disturbances include depression, neurotic behaviors, disorganization in personality and intellectual deterioration although brain and liver is the common site for copper accumulation, some patients can also have copper accumulation in the eye, resulting in Kayser- Fleischer rings. the KF rings rarely impair vision, but is a obvious sign that leads to diagnosis Clinical Diagnosis Often times, the initial steps for clinical diagnosis of Wilson s disease are test for a)low ceruloplasmin concentration, b) high urinary copper c)increased hepatic copper concentration. If a patient tests positive for 2 out of the 3 above then it is a strong support for the Wilson s disease diagnosis. However, in order to 100% confirm if a person has Wilson s disease, it is ideal to perform a molecular genetic testing given that the disease is a genetic disorder. Related Gene The main gene involved in the wilson s disease is the atp7b gene mapped on the 13th chromosome(13q14.3-q21 1). the mutation on this gene would cause Wilsons disease. The atP7b gene provides instruction for making protein responsible for copper transport and elimination When this gene is damaged and cannot perform responsible tasks, copper accumulation will lead to tissue and organ Another gene related, but not involved in Wilson's disease would be the PRNpDiana Tseng Genetics – Review Paper Dr. Liu Wilson’s Disease Occurs in approximately 1 in 30,000 individuals, Wilson’s disease is a relatively rare disorder known for the over accumulation of copper in tissues. This copper metabolism disease is an autosomal recessive genetic disorder, meaning a patient must inherit a copy of mutated gene from both parent in order to be clinically symptomatic. The over accumulation of copper in the body often manifest as neurological or psychiatric symptoms, and liver disease. This is because the main site of copper accumulation is usually the liver and brain. The gene responsible for the Wilson’s disease would be the ATP7B gene, located on the 13th chromosome. Signs and Symptoms Since the main site of copper accumulation is the brain and liver, neuropsychiatric symptoms and liver disease are usually the main features that lead to diagnosis. Patients that develop liver disease usually present symptoms such as tiredness, fatigue, jaundice, loss of appetite, and abdominal swelling. However, symptoms of liver disease can be considerably subtle at times and could be often ignored. Thus, about 5% patients do not realize the disease until an acute liver failure. On the other hand, accumulation of copper in the brain will lead to neurological and psychiatric presentations. Neurological symptoms may include tremors, poor coordination, and cognitive disorders, such as poor memory, judgment, and reasoning. While, psychiatric disturbances include depression, neurotic behaviors, disorganization in personality, and intellectual deterioration. Although brain and liver is the common site for copper accumulation, some patients can also have copper accumulation in the eye, resulting in Kayser- Fleischer rings. The KF rings rarely impair vision, but is a obvious sign that leads to diagnosis. Clinical Diagnosis Often times, the initial steps for clinical diagnosis of Wilson’s disease are test for: a) low ceruloplasmin concentration, b) high urinary copper, c) increased hepatic copper concentration. If a patient tests positive for 2 out of the 3 above, then it is a strong support for the Wilson’s disease diagnosis. However, in order to 100% confirm if a person has Wilson’s disease, it is ideal to perform a molecular genetic testing, given that the disease is a genetic disorder. Related Gene The main gene involved in the Wilson’s disease is the ATP7B gene, mapped on the 13th chromosome (13q14.3-q21.1). The mutation on this gene would cause Wilson’s disease. The ATP7B gene provides instruction for making protein responsible for copper transport and elimination. When this gene is damaged and cannot perform responsible tasks, copper accumulation will lead to tissue and organ damage. Another gene related, but not involved in Wilson’s disease would be the PRNP