Report of Wilson's Disease and William's Syndrome
Sarah Seddon
October 29, 2012
SBI-3U
Mrs. Varga
Wilson’s Disease Wilson’s disease is a rare genetic disorder that prevents an individual from excreting excess copper from their body, eventually leading to toxic levels of copper. The chromosomes affected in this disorder are the pair of the thirteenth chromosomes, specifically the ATP7B gene which is located in the long arm of each chromosome thirteen and contains the DNA needed to make copper regulating proteins. A point or frame-shift DNA mutation occurs in the ATP7B during meiosis leaving the individual with the wrong nitrogenous base and therefore incorrect instructions to build the proteins that pair up with unneeded copper to excrete it from the body. Studies show frame-shift mutations are a more frequent cause of this disorder. A person is generally five or six years old when symptoms start to appear because it takes five to six years for the copper levels to become toxic enough to cause noticeable damage. The disorder is caused by the excess of copper which damages the brain, kidneys, liver and eyes. Physical characteristics and their severity vary between cases because there is different mutations that cause the disorder. The physical characteristics related to the liver are hepatitis (liver inflammation), cirrhosis, fatigue and supressed appetite, jaundice, abdominal pain and swelling, and swelling of the ankle and spleen. The physical characteristics related to the brain are neurological and psychiatric characteristics. Neurological characteristics include twitches and tremors, difficulty speaking, eating, walking and moving in general. Also the individual may have very rigid and stiff movements similar to an individual who has Parkinson’s disease. Psychiatric symptoms include personality changes, increased anxiety and poor memory. In some cases the kidney becomes damaged resulting in blood and protein appearing in urine. The most distinctive physical characteristic is the greenish-brownish rings
October 29, 2012
SBI-3U
Mrs. Varga
Wilson’s Disease Wilson’s disease is a rare genetic disorder that prevents an individual from excreting excess copper from their body, eventually leading to toxic levels of copper. The chromosomes affected in this disorder are the pair of the thirteenth chromosomes, specifically the ATP7B gene which is located in the long arm of each chromosome thirteen and contains the DNA needed to make copper regulating proteins. A point or frame-shift DNA mutation occurs in the ATP7B during meiosis leaving the individual with the wrong nitrogenous base and therefore incorrect instructions to build the proteins that pair up with unneeded copper to excrete it from the body. Studies show frame-shift mutations are a more frequent cause of this disorder. A person is generally five or six years old when symptoms start to appear because it takes five to six years for the copper levels to become toxic enough to cause noticeable damage. The disorder is caused by the excess of copper which damages the brain, kidneys, liver and eyes. Physical characteristics and their severity vary between cases because there is different mutations that cause the disorder. The physical characteristics related to the liver are hepatitis (liver inflammation), cirrhosis, fatigue and supressed appetite, jaundice, abdominal pain and swelling, and swelling of the ankle and spleen. The physical characteristics related to the brain are neurological and psychiatric characteristics. Neurological characteristics include twitches and tremors, difficulty speaking, eating, walking and moving in general. Also the individual may have very rigid and stiff movements similar to an individual who has Parkinson’s disease. Psychiatric symptoms include personality changes, increased anxiety and poor memory. In some cases the kidney becomes damaged resulting in blood and protein appearing in urine. The most distinctive physical characteristic is the greenish-brownish rings