- Person
- Stanley Prusiner
- Lived
- b. 1942
- Field
- Neurology
- From
- American
The story
One of the most puzzling features of Creutzfeldt-Jakob disease and related illnesses was that they could appear in three ways. Some cases were transmitted by infection, some ran in families and some seemed to arise out of nowhere. According to the Nobel Assembly, about 85 to 90 per cent of Creutzfeldt-Jakob cases occur spontaneously and 10 to 15 per cent are caused by mutations in a gene, while only rare cases come from infection. Other prion diseases, such as Gerstmann-Sträussler-Scheinker disease and fatal familial insomnia, are purely hereditary and run in a few dozen families worldwide. No ordinary virus could explain all three patterns.
Stanley Prusiner's prion theory could. By the mid-1980s his team and collaborators had found the gene that makes the prion protein and cloned it. The next step was to show that faults in that gene cause disease. In his laboratory, Karen Hsiao discovered a mutation in the prion protein gene that causes familial prion disease, and the team reproduced the disease by introducing the mutated gene into mice, which then developed a scrapie-like illness. Michael Scott produced transgenic mice that overcame the barrier that normally stops prions passing between species, and later made artificial prions from hybrid genes. Stephen DeArmond, a neuropathologist, used antibodies to trace how the disease develops in the brains of such mice.
Further proof came in 1992, when prion researchers created knockout mice that lacked the prion gene entirely. These animals were completely resistant to infection, but when the gene was put back they became susceptible again.
The Nobel Assembly later summed up the result: prion diseases may be inherited, transmitted, or occur spontaneously. As Prusiner recalled in his Nobel autobiography, no experiment from any laboratory overturned the prion concept, and by the early 1990s it was coming to be accepted in many quarters of the scientific community.
The genetic work changed how doctors understand these illnesses. Families with inherited prion disease could now learn the cause of the illness that ran through generations, and genetically engineered mice became one of the main ways to study prion diseases and test possible treatments.
Why it matters
Understanding the genetic forms of prion disease has helped families affected by inherited conditions and made genetically engineered mice a key tool for testing treatments.
About Stanley Prusiner
Neurologist who discovered prions, infectious proteins with no DNA or RNA, behind mad cow and Creutzfeldt–Jakob disease, winning the 1997 Nobel Prize for a once-derided idea.
More about Stanley Prusiner
- Stanley Prusiner founded an institute for brain diseasesIn 1999 Stanley Prusiner founded the Institute for Neurodegenerative Diseases at the University of California, San Francisco, to study illnesses caused by misfolded proteins.
- Stanley Prusiner told the prion story in a memoirIn 2014 Stanley Prusiner published Madness and Memory, his account of discovering prions and of the long scientific battle over an idea once dismissed as heresy.
- Stanley Prusiner found the prion gene in our own DNAIn 1984 Stanley Prusiner's team showed that the gene for the prion protein is found in all animals tested, including humans, a startling result that reshaped the understanding of brain disease.
- Stanley Prusiner discovered prions, a new kind of infectionIn 1982 Stanley Prusiner identified prions, infectious proteins with no DNA or RNA, an idea met with scepticism that won him the 1997 Nobel Prize.
- Stanley Prusiner's prions opened new routes to dementiaThe Nobel Assembly said Stanley Prusiner's discovery of prions could furnish the basis for understanding other dementias such as Alzheimer's disease and for developing new treatments.
- Stanley Prusiner revealed why prions are so hard to destroyStanley Prusiner's work showed that the disease-causing prion protein is extraordinarily stable, resisting enzymes, solvents and temperatures above 100°C, explaining why prions are so hard to kill.
Sources
- Stanley B. Prusiner, Biographical NobelPrize.org
- The Nobel Prize in Physiology or Medicine 1997, Press release NobelPrize.org
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