PRNP

PRNP (Prion Protein) is a gene that in humans is located on the short (p) arm of chromosome 20 at position 13. It encodes the major prion protein that plays a key role in the development of Transmissible spongiform encephalopathies (TSEs), a group of neurodegenerative diseases.

Function

The PRNP gene provides instructions for making a protein called prion protein (PrP). Although the precise function of this protein is not fully understood, it is known to play a crucial role in the nervous system. Some research suggests that PrP may be involved in the transport of copper into cells, protection of cells from oxidative stress, and regulation of the immune system.

Role in Disease

Mutations in the PRNP gene are associated with several forms of inherited prion diseases, including Creutzfeldt-Jakob disease (CJD), Fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker syndrome (GSS). These conditions are characterized by rapidly progressive dementia, neurological symptoms and an accumulation of an abnormal isoform of the prion protein in the brain.

Genetic Testing

Genetic testing can identify mutations in the PRNP gene. This can confirm a diagnosis of a prion disease in a person with characteristic signs and symptoms. However, because these conditions are so rare, genetic testing is not typically done unless a person has a family history of the disorder.

See Also

• Prion
• Neurodegenerative disease
• Genetic disorder

References

• Prusiner SB. Prions. Proc Natl Acad Sci U S A. 1998;95(23):13363-83.
• Collinge J. Prion diseases of humans and animals: their causes and molecular basis. Annu Rev Neurosci. 2001;24:519-50.

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