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Prions
Prions are misfolded proteins that cause other normal proteins to misfold as well. They contain no DNA or RNA. This makes them unusual and exceptionally difficult to destroy.The normal version is PrP^C. It is a protein found throughout the body, especially in the brain, though its exact function is not fully understood.The disease-causing version is PrP^Sc. It has the same amino acid sequence as PrP^C but is folded incorrectly into beta-sheets. This abnormal form is highly resistant to proteases, heat, and standard sterilization methods.How prions spread:PrP^Sc acts as a template. When it contacts normal PrP^C, it forces the normal protein to refold into the abnormal PrP^Sc shape. This process creates more prions, which aggregate into amyloid plaques that damage and kill neurons.Human prion diseases:Creutzfeldt-Jakob Disease (CJD): Approximately 85% of cases are sporadic, 15% genetic, and less than 1% acquired. It causes rapid dementia, myoclonus, and death, usually within one year.Variant CJD: Acquired from eating beef infected with bovine spongiform encephalopathy (BSE). It typically affects younger patients and often begins with psychiatric symptoms.Fatal Familial Insomnia: A genetic form that starts with severe insomnia, progressing to hallucinations and dementia.Kuru: A historical disease linked to ritual cannibalism in Papua New Guinea.Gerstmann–Sträussler–Scheinker syndrome: A genetic form that progresses more slowly, featuring ataxia and dementia.Animal prion diseases:Mad Cow Disease (Bovine Spongiform Encephalopathy)Scrapie in sheep and goatsChronic Wasting Disease in deer and elkKey clinical features:Rapidly progressive dementia Myoclonus Ataxia and visual disturbances MRI: cortical ribboning and basal ganglia hyperintensity EEG: periodic sharp wave complexes (especially in CJD) CSF: elevated 14-3-3 protein and positive RT-QuIC test for PrP^ScWhy prions are a major concern:They are incurable, with no effective treatments available. All prion diseases are 100% fatal. They are extremely difficult to decontaminate. Standard autoclaving is ineffective. Reliable methods require sodium hydroxide combined with autoclaving at 134°C for 18 minutes or longer. There is a risk of iatrogenic transmission. Past cases have resulted from dura mater grafts, corneal transplants, contaminated surgical instruments, and human growth hormone derived from cadavers.
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