creutzfeldt jakob disease

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Genetic mutation blocks prion disease
Unknown mechanism helped some people in Papua New Guinea escape historic, deadly outbreak.

Scientists who study a rare brain disease that once devastated entire communities in Papua New Guinea have described a genetic variant that appears to stop misfolded proteins known as prions from propagating in the brain1.

Kuru was first observed in the mid-twentieth century among the Fore people of Papua New Guinea. At its peak in the late 1950s, the disease killed up to 2% of the group’s population each year. Scientists later traced the illness to ritual cannibalism2, in which tribe members ate the brains and nervous systems of their dead. The outbreak probably began when a Fore person consumed body parts from someone who had sporadic Creutzfeldt-Jakob disease (CJD), a prion disease that spontaneously strikes about one person in a million each year.

Scientists have noted previously that some people seem less susceptible to prion diseases if they have an amino-acid substitution in a particular region of the prion protein — codon 1293. And in 2009, a team led by John Collinge — a prion researcher at University College London who is also the lead author of the most recent analysis — found another protective mutation among the Fore, in codon 1274.

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Eating brains helped Papua New Guinea tribe resist disease

Research involving a former brain-eating tribe from Papua New Guinea is helping scientists better understand mad cow disease and other so-called prion conditions and may also offer insights into Parkinson’s and dementia.

People of the Fore tribe, studied by scientists from Britain and Papua New Guinea, have developed genetic resistance to a mad cow-like disease called kuru, which was spread mostly by the now abandoned ritual of eating relatives’ brains at funerals.

Experts say the cannibalistic practice led to a major epidemic of kuru prion disease among the Fore people, which at its height in the late 1950s caused the death of up to 2% of the population each year.

In findings published in the scientific journal Nature, the researchers said they had identified the specific prion resistance gene – and found that it also protects against all other forms of Creutzfeldt-Jakob disease (CJD).

“This is a striking example of Darwinian evolution in humans, the epidemic of prion disease selecting a single genetic change that provided complete protection against an invariably fatal dementia,” said John Collinge of the Institute of Neurology’s prion unit at University College London, which co-led the work.

Papua New Guinea Photograph: Lloyd Jones/AAP Image

OB Science Time: The Castor Disease

Episode 3x03 had a lot of science in it, so it’s time for a second edition of OB Science Time to discuss the science behind the Castor Disease, or “glitching”.

Scott says, upon examining Seth’s brain that “it looks like Swiss cheese” and he mentions encephalopathy as well as Creutzfeldt-Jakob disease. Encephalopathy is an umbrella of diseases categorized by an altered mental state, including symptoms such as loss of cognitive function, subtle personality changes, and inability to concentrate. We certainly saw these symptoms in Seth, with his inability to perform well on Paul’s syllogism test, as well as his violent outburts and his mutterings in the stairwell before his final episode.

Creutzfeldt-Jakob disease is caused by prions, which are misfolded proteins that then act as an agent to convert their properly folded counterparts into more prions. The classic result of these prions is a change in the gray matter of the brain, causing large vacuoles to form, giving the appearance of Swiss Cheese. Symptoms of this disease include memory loss, personality change, and hallucinations, as well as jerky movements and seizures.

My guess is that the Castor disease functions in a similar manner as these diseases. Scott also mentioned the presence of amyloid plaques in Seth’s brain, which are protein aggregates. These aggregates, which could be made up of prions, could be causing neurodegeneration, leading to the Castor glitches and altered mental states.

It will be interesting to see what Cosima and Scott do with this knowledge, and more importantly, how the Castor clones will go about finding a cure for their malfunction.

My ask is always open for any questions or comments, and you can find more OB Science Time here!! :D

Protein linked to Alzheimer’s could be spread during surgery, say researchers

Fragments of sticky proteins found in the brains of people with Alzheimer’s disease could potentially be spread to others via contaminated surgical instruments and other medical procedures, scientists warn.

Researchers called for further work into the possibility that metal instruments used in medical procedures could pick up harmful proteins which survive conventional sterilisation with formaldehyde.

The concern comes after scientists found that a small number of people who died from Creutzfeldt-Jakob disease (CJD) after being treated with growth hormone taken from cadavers, developed brain changes seen in Alzheimer’s disease.

“This is the first evidence of real-world transmission of amyloid pathology,” says molecular neuroscientist John Hardy of University College London (UCL). “It is potentially concerning.”

The small study indicated that potential routes of transmission, such as surgical instruments, should be investigated. Photograph: David Levene/the Guardian

There’s a real rage virus. When Mad Cow gets in humans, they call it Creutzfeldt-Jakob disease. Check out the symptoms:

  •    Changes in gait (walking)
  •    Hallucinations
  •    Lack of coordination (for example, stumbling and falling)
  •    Muscle twitching
  •    Myoclonic jerks or seizures
  •    Rapidly developing delirium or dementia

Sure, the disease is rare (though maybe not as rare as we think) and the afflicted aren’t known to chase after people in murderous mobs. Yet.

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