Wilson Disease

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What is Wilson disease?

Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. Symptoms of Wilson disease usually appear between the ages of 6 and 40, but most often begin during the teenage years. In children, liver disease is the most common feature. Signs and symptoms of liver disease include yellowing of the skin or the whites of the eye (jaundice), fatigue, loss of appetite, and abdominal swelling. Psychiatric and nervous system problems are common in young adults with Wilson disease. Signs and symptoms can include clumsiness, trembling, difficulty walking, speech problems, deteriorating school work, depression, anxiety, and mood swings. In many individuals with Wilson disease, copper deposits form a green-to-brownish ring, called the Kayser-Fleischer ring, around the cornea (the front surface of the eye).

How common is Wilson disease?

Wilson disease is a rare disorder that affects approximately 1 in 30,000 individuals.

What genes are related to Wilson disease?

Mutations in the ATP7B gene cause Wilson disease.

The ATP7B gene makes a protein important for copper transport and the elimination of excess copper from the body. The mutated gene prevents the transport protein from functioning properly, allowing copper to accumulate in the liver, brain, and other tissues.

How do people inherit Wilson disease?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.

Source: National Institutes of Health

Data from Postgraduate Institute of Medical Education and Research advance knowledge in hepatolenticular degeneration therapy

"The H1069Q, R778W and R778L mutations were absent in these WD patients. R778W and I1102T mutations were present in 36% of WD patients. Family analysis for these mutations using PCR-RFLP documented 5 carriers and 2 asymptomatic WD patients. The copper ATPase activity in WD patients was significantly reduced (50%) than that of control individuals. No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients. Serum ceruloplasmin, serum copper levels were significantly lower in homozygous WD patients than that of compound heterozygous. However, no significant difference was observed in liver copper contents between heterozygous and homozygous patients," wrote S. Kumar and colleagues, Postgraduate Institute of Medical Education and Research.

The researchers concluded: "The data suggest that R778W and I1102T are most common mutations and provide the basis of genetic (PCR-RFLP) diagnostic tool for Indian WD patients as well as in siblings/parents where biochemical parameters are ambiguous."

Kumar and colleagues published their study in Molecular and Cellular Biochemistry (Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity. Molecular and Cellular Biochemistry, 2007;294(1-2):1-10).

For additional information, contact S. Kumar, Postgraduate Institute of Medical Education and Research, Dept. of Biochemistry, Chandigarh, 160012, India.

Publisher contact information for the journal Molecular and Cellular Biochemistry is: Kluwer Academic Publ, Van Godewijckstraat 30, 3311 Gz Dordrecht, Netherlands.

Keywords: India, Chandigarh, Hepatolenticular Degeneration Therapy, Cellular Biochemistry, Copper, Drugs, Genotyping, Hepatolenticular Degeneration, Pharmaceuticals, Therapy, Treatment.

This article was prepared by Biotech Business Week editors from staff and other reports. Copyright 2007, Biotech Business Week via NewsRx.com.