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A new prion disease

About 50 years ago, scientists made the surprising discovery that some diseases, such as mad cow disease and Creutzfeldt-Jakob disease are transmitted by misfolded proteins, and not by viruses, bacteria, or other living things. Although rare, these "prion" diseases cause terrible symptoms and are essentially untreatable. The idea of an infectious agent consisting of only a single protein was so surprising that the mere existence of prions remained controversial for many years. In 1997 Stanley Prusiner was awarded a Nobel Prize for discovering this new mechanism of infection.

Now, for the first time in almost half a century, a new prion disease has been discovered. A group of scientists at the University of California, San Francisco has shown that Multiple System Atrophy (MSA), a rare Parkinson's disease-like disorder, is actually caused by a prion. These researchers generated humanized mice carrying a variant of the human alpha-synuclein gene, and then injected them with tissue from the brains of MSA patients. All of these injected mice died after about four months, with symptoms similar to MSA. Additionally, tissue taken from the dead mice could further transmit the disease to other humanized mice, and microscopically, the mouse brain tissue resembled human MSA patients.

The discovery of a new prion raises the possibility that there are other undiscovered disease-causing prions. It also will hopefully lead to treatments for MSA, which currently has no cure.

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1. Prusiner SB. Prions. Nobel Lecture (1998) PNAS, 95:13363-13383
2. Prusiner SB, Woerman AL, Mordes DA, Watts JC, Rampersaud R, Berry DB, Patel S, Oehler A, Lowe JK, Kravitz SN, Geschwind DH, Glidden DV, Halliday GM, Middleton LT, Gentleman SM, Grinberg LT, Giles K. (2015) Evidence for α-synuclein prions causing multiple system atrophy in humans with parkinsonism. PNAS, Aug. 31

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