Estephanie P-type ATPase which is encoded by the
Estephanie Garcia VargasJan.10.2018W.C – 671Per. 3Wilson’s disease ( or hepatolenticular degeneration )An inherited disorder that causes too much copper to accumulate in the organs, particularly in your liver, brain and eyes is called Wilson’s Disease. Wilson’s Disease is a very rare condition, approximately occurs in 1 in 30,000 – 40,000 people worldwide. With this condition, the features include liver disease, neurological and psychiatric problems. The time the symptoms start showing is usually between the ages of 6 and 60+. Individuals diagnosed at an older age don’t show symptoms of liver disease. The most common symptoms of this disease is : fatigue, weakness, vomiting, loss of appetite, weight loss, muscle cramps , swelling in legs feet and/or ankles, itching, pain and bloating from the fluid in the abdomen, spider looking blood vessels also known as spider angiomas, jaundice which causes the skin and the white of the eye to turn yellow and with this condition the copper gets to the front surface of the eye specifically the cornea which then forms green to brownish ” ring ” which is surrounding the colored part of the eye, also known as Kayser-Fleischer ring. Someone would inherit this disease if both of the parents only carry one genetic mutation gene that they both pass down to their ” affected ” child. This would mean that Wilson’s Disease is an autosomal recessive disease and that it would mean that if both parents are carriers they would’ve have a chance of them inheriting the trait , but when passed down to a child the chances grow of them inheriting the disease. Wilson’s Disease is/can be caused by mutations in the ATP7B protein. This gene is a copper-transporting P-type ATPase which is encoded by the ATP7B gene. This protein can be located in the trans-Golgi network of the liver and the brain which balances the copper level in the body by eliminating the excess copper into bile and plasma.” Can Wilson’s Disease be cured ? “Wilson’s disease doesn’t have a cure quite yet, but it is a very treatable condition. With the treatment, it does consist of very heavy metal toxicity medications such as : Penicillamine – help with treating too much copper in the body, Trientine – helping with those who can’t take Cuprimine ® or Depen ® ( penicillamine ). Another treatment doctors will most likely decide on is that the patient will get a liver transplant. For therapy or specialists to see are about Wilson’s Disease would be : Hepatologist , Gastroenterologist, Primary care provider ( PCP ) and an Ophthalmologist. When also having Wilson’s Disease, the patient’s liver doesn’t release copper into the bile as it should be. Then with that copper it builds up which does lead to having damage in the kidney, brain, and also the eyes. If not treated, Wilson’s Disease can / will cause severe brain damage, liver failure and death. This questions is very important because it has to do with treatment and when I got my topic that was my first thought. Also because in my opinion, if i was diagnosed I would want to know very little thing that could help make the disease ” go away ” ; if it was fatal ( which it yes ) etc. This was very relevant because it’s about the treatment that’s the most very important thing to know.” How can someone prevent from having Wilson’s Disease ? “Jeff CrapperNo one can prevent Wilson’s Disease. However, they can go to a clinic / hospital and get treated ( genetic testing ). Health care providers can be able to diagnose Wilson’s Disease even before the symptoms are showing. What people can do is be early diagnosed and be treated for Wilson’s Disease and that will prevent or even reduce organ damage.This is important because it tell us that there is always a way, always something that we could do it stop it from spreading or from when it’s too late. This is also relevant because it matters of what is happening in the inside of our body, and also because it says that we may not get rid of the entire disease but that we can the disease not as fatal as it needs to be.