Diana s Genetics -Review Paper gene. Since the onset age for wilson s disease is greatly ranged from 6-50, a variation on the prnp gene could delay the age of onset. the prnp gene provides instruction for making prion protein and a variation in position 129 would result in the production of methionine instead of valine. this difference could delay the age of onset for wilson 's disease Treatment Wilsons disease cannot be completely cured, therefore patients require a life-long treatment and management protocol. Some drugs such as Penicillamine and Trietine can aid copper removal from the body. these drugs are commonly known as chleators, meaning that they bind to copper and lead to copper excretion throu urine. However, penicillamine may have severe side effects such as fever, rash leucopenia, and in worse cases, it can also drastically worsen neurological symptoms With better effect and tolerance, trietine has been gradually replacing Penicillamine as the first line treatment for wilson 's disease Another way to manage the condition of wilsons disease is to prevent copper bsorption from a patient 's daily diet. other than avoiding high copper food such as liver, brain, chocolate, mushrooms, shellfish, and nuts, oral Zinc can also prevent copper absorption. Since Zinc is a metallothionein inducer, it interferes with coppe absorption from the Gl tract and it induces enterocyte metallothionein, which binds with copper and eliminates through fece ver transplant is usually the last resort for patients that have an acute liver failure due to wilson 's di sease Genetic Counseling Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders and to help them make informed medical and personal decisions. Since Wilson s disease is an autosomal recessive genetic disorder both parent has to pass down a copy of a mutated atP7B gene to their child in order for him or her to develop the disease Parents of a proband are obligated carriers or heterozygous, and also could be patients of Wilsons disease. Carriers usually are asymptomatic and do not develop any clinical disease. Siblings of a proband have a 25% chance of being affected, 50% chance of being an asymptomatic carrier, and 25% chance of being unaffected and not a carrier. Offspring of a proband are obligated carriers but given that the carrier rate in the general population is about 1 in 90 the chance for the offspring to be affected is about 1 in 180 which is a considerably low probability although carriers are rarely of any clinical significance, carrier status should still be identified for future family planning considerationsDiana Tseng Genetics – Review Paper Dr. Liu gene. Since the onset age for Wilson’s disease is greatly ranged from 6-50, a variation on the PRNP gene could delay the age of onset. The PRNP gene provides instruction for making prion protein and a variation in position 129 would result in the production of methionine instead of valine. This difference could delay the age of onset for Wilson’s disease. Treatment Wilson’s disease cannot be completely cured, therefore patients require a life-long treatment and management protocol. Some drugs such as Penicillamine and Trietine can aid copper removal from the body. These drugs are commonly known as chleators, meaning that they bind to copper and lead to copper excretion through urine. However, penicillamine may have severe side effects such as fever, rash, leucopenia, and in worse cases, it can also drastically worsen neurological symptoms. With better effect and tolerance, Trietine has been gradually replacing Penicillamine as the first line treatment for Wilson’s disease. Another way to manage the condition of Wilson’s disease is to prevent copper absorption from a patient’s daily diet. Other than avoiding high copper food such as liver, brain, chocolate, mushrooms, shellfish, and nuts, oral Zinc can also prevent copper absorption. Since Zinc is a metallothionein inducer, it interferes with copper absorption from the GI tract and it induces enterocyte metallothionein, which binds with copper and eliminates through feces. Liver transplant is usually the last resort for patients that have an acute liver failure due to Wilson’s disease. Genetic Counseling Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders and to help them make informed medical and personal decisions. Since Wilson’s disease is an autosomal recessive genetic disorder, both parent has to pass down a copy of a mutated ATP7B gene to their child in order for him or her to develop the disease. Parents of a proband are obligated carriers or heterozygous, and also could be patients of Wilson’s disease. Carriers usually are asymptomatic and do not develop any clinical disease. Siblings of a proband have a 25% chance of being affected, 50% chance of being an asymptomatic carrier, and 25% chance of being unaffected and not a carrier. Offspring of a proband are obligated carriers, but given that the carrier rate in the general population is about 1 in 90, the chance for the offspring to be affected is about 1 in 180, which is a considerably low probability. Although carriers are rarely of any clinical significance, carrier status should still be identified for future family planning considerations