Prion disease

What is prion disease?

Prion diseases belong to group of progressive conditions that affect the nervous system in humans and animals. In people, prion diseases impair brain function, causing memory changes, personality changes, a decline in intellectual function (dementia), and problems with movement that worsen over time. The signs and symptoms of these conditions typically begin in adulthood, and these disorders lead to death within a few months to several years.

Familial prion diseases of humans include classic Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal insomnia (FI). These conditions form a spectrum of diseases with overlapping signs and symptoms.

How common is prion disease?

These disorders are very rare. They affect about one person per million worldwide each year. Approximately 300 cases occur annually in the United States.

What genes are related to prion disease?

Mutations in the PRNP gene cause prion disease.

Only a small percentage of prion disease cases run in families. Most cases are sporadic, which means they occur in people without any known risk factors or gene mutations. Rarely, prion diseases can be transmitted by accidental exposure to prion-contaminated tissues during a medical procedure. This type of prion disease is called iatrogenic.

One type of prion disease in humans, variant Creutzfeldt-Jakob disease (vCJD), is acquired by eating beef products obtained from cattle with prion disease. In cows, this form of the disease is known as bovine spongiform encephalopathy (BSE) or, more commonly, "mad cow" disease. Another example of an acquired human prion disease is kuru, which was identified in the South Fore tribe in Papua New Guinea. The disorder was transmitted when tribe members ate the tissue of affected people during cannibalistic funeral rituals.

Familial forms of prion disease are caused by inherited mutations in the PRNP gene. This gene provides instructions for making a protein called prion protein (PrP). Normally, this protein is likely involved in transporting copper into cells. It may also play a role in protecting brain cells and helping them communicate. In familial cases of prion disease, mutations in the PRNP gene cause cells to produce an abnormal form of the prion protein known as PrP^Sc. In iatrogenic and acquired cases, an affected person develops prion disease from exposure to this abnormal protein.

In a process that is not fully understood, PrP^Sc has the ability to convert the normal prion protein, PrP^C, into more PrP^Sc. This abnormal protein builds up in the brain, forming clumps that damage or destroy nerve cells. The loss of these cells creates microscopic sponge-like holes in the brain, which leads to the signs and symptoms of prion disease.

How do people inherit prion disease?

Familial forms of prion disease are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. In some people, familial forms of prion disease are caused by a new mutation in the PRNP gene. Although such people most likely do not have an affected parent, they can pass the genetic change to their children.

The sporadic, iatrogenic, and acquired forms of prion disease, including kuru and variant Creutzfeldt-Jakob disease, are not inherited.

External Resources

Official Mad Cow Disease Home Page - The Internet's largest site for mad cow disease, BSE, scrapie, CJD, and other prion diseases. Coverage of news, prion molecular biology and research developments. Color slides of spongiform brains.

InPro Biotechnology, Inc. - Developing diagnostic tests, process validation to ensure prion-free manufacturing, research reagents, to address health and safety against human and animal prion diseases. Includes introduction to biochemistry, careers and location in South San Francisco, California.

Prionics AG - Focused on developing diagnostic tests for prion diseases, and other neurological disorders.

Prion protein- Part I - Very detailed article on prion proteins and prion diseases.

Protein Misfolding in Prion Disease - Extensive review of the pathogenesis of prion diseases.

Prion diseases overview - General article about the prion hypothesis, the different diseases, and their possible treatment.

Fatal Familial Insomnia Families Association: Prion Disease - Provides history of this rare disease, clinical features, research, news, links, support, and a forum.

Deadly Conformations-Protein Misfolding in Prion Disease - Research article on prions.

Prionics AG - A biotechnology company specialising in diagnosis of neurological disorders in animals, located in Zurich, Switzerland. Technical information on products and Prion diseases.

Prion Diseases - Information about scrapie and other diseases in which a protein is the infective agent.

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