Wilson’s disease is a genetic condition that affects approximately 1 in 30 000 people and causes copper to accumulate in some of the body’s tissues. Copper ions are toxic but the body does require a small amount of them for aerobic respiration and other processes. The excess ions we consume are usually excreted in bile, however in Wilson’s disease the channels that export copper ions to the bile are mutated so they remain in the body. Symptoms vary hugely between patients, there is no “typical” Wilson’s disease patient. Some may appear symptomless while others can have difficulty speaking and walking.
Copper accumulates primarily in the liver, causing cirrhosis and eventually liver failure if left untreated. There may be accumulation in the cornea, causing the Kayser-Fleischer rings that are associated with liver diseases. Some patients may present neurological symptoms when copper accumulates in the brain, often in the basal ganglia. It is this region that selects which movements to carry out and is also affected by Parkinson’s disease so many neurological symptoms are similar to those of Parkinson’s disease. These include disturbances of balance and movement as well as and tremors or stiffness of muscles because control over the muscles is reduced. Regions of the brain that affect speaking and swallowing can also be affected and patients may experience psychiatric problems.
Because there is a wide variety of symptoms and they can present at any age, typically between 6 and 40, Wilson’s disease is difficult to detect. Copper accumulates from birth but the rate at which this happens and the areas of the body in which copper ions accumulate varies between patients. It is usually detected following abnormalities in liver function tests or when a family member is diagnosed with the disease. It is an autosomal recessive condition so two copies of a mutated gene are required for a person to show symptoms. Children of two parents who are carriers for the disease, with one mutated copy and one normal copy of the gene but who do not show symptoms, have a one in four chance of having Wilson’s disease.
Despite this Wilson’s disease is treatable and most patients can, with the correct medication, live a relatively unaffected life. However, many patients experience side effects from their medication, which has to be multiple times a day. We believe that our probiotic solution to Wilson’s disease will be more convenient and have fewer side effects than the current treatment options.
Oxford iGEM 2016 