Wilson, ...- disease (Wilson Disease) - Gen ATP7B
Wilson's disease is an inherited disorder in which excessive amounts of copper accumulate in the body, especially the liver, brain and eyes. Signs and symptoms of Wilson's disease usually first appear between the ages of 6 and 45 years, but most often begin during adolescence. This disease is characterized by a combination of hepatic, neurological and psychiatric manifestations.
Liver disease is the typical initial involvement of Wilson's disease in affected children and young adults; individuals diagnosed at an older age usually have no liver symptoms, although they may have mild liver impairment. Signs and symptoms of liver disease include jaundice, fatigue, anorexia and ascites. In adults, especially young adults, the initial characteristics of Wilson's disease present with neurologic impairment or psychiatric problems. Signs and symptoms of these problems can include clumsiness, tremor, difficulty walking, slurred speech, impaired reasoning, depression, anxiety and mood swings.
In many people with Wilson's disease, copper deposits on the cornea form a ring between green and brown, called the Kayser-Fleischer. Abnormalities can also occur in the eye, such movements as a constraint to look up.
Wilson's disease is caused by mutations in the ATP7B gene, located on the long (q) arm of chromosome 13 (13q14.3). This gene encodes two protein ATPase, that carries copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. Copper transport protein ATPase 2 is very important to remove excess copper from the body. Cunando lack functional ATPase 2, excess copper not eliminated from the body, and as a result, accumulates in toxic concentrations can damage tissue and organs, especially the liver and brain.
There are more than 250 mutations ATP7B gene causing Wilson's disease. Approximately half of mutations changing one amino acid ATPase 2. This type of mutation alters dimensional structure of the protein or its stability, preventing copper transport ATPase 2 malfunction.
This condition is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell must have the mutation for the disease to manifest .. The parents of an individual with an autosomal recessive disorder have a copy of the mutated gene, but usually they show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Wilson's disease, by complete PCR amplification of exons respectively ATP7B gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).