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Ishwari Mulay
Jan 32 min read

When proteins become disastrous

Prions are infectious proteins: altered forms of a normal cellular protein that may have lost their normal function, but have acquired the ability to change the normal form of the protein into the same abnormal form as themselves. The functions of these prion proteins are still not completely understood. The abnormal folding of the proteins leads to brain damage and the characteristic signs and symptoms of the disease. Prion diseases or transmissible spongiform encephalopathies (TSEs) are usually rapidly progressive and always fatal.


The most common form of prion disease that affects humans is Creutzfeldt-Jakob disease (CJD).



Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, invariably fatal neurodegenerative disorder believed to be caused by an abnormal isoform of a cellular glycoprotein known as the prion protein.

A person can inherit this condition, in which case it's called familial CJD. Sporadic CJD, on the other hand, develops suddenly without any known risk factors. Most cases of CJD are sporadic and tend to strike people around age 60. Acquired CJD is caused by exposure to infected tissue during a medical procedure, such as a cornea transplant.



CJD symptoms may include any of the following:

  • Dementia that gets worse quickly over a few weeks or months

  • Blurred vision (sometimes)

  • Changes in gait (walking)

  • Confusion, disorientation

  • Hallucinations (seeing or hearing things that aren't there)

  • Lack of coordination (for example, stumbling and falling)

  • Muscle stiffness, twitching

  • Feeling nervous, jumpy

  • Personality changes

  • Sleepiness

  • Sudden jerky movements or seizures

  • Trouble speaking


Physicians suspect a diagnosis of CJD on the basis of the typical signs and symptoms and progression of the disease. In most CJD patients, the presence of 14-3-3 protein in the cerebrospinal fluid and/or a typical electroencephalogram (EEG) pattern, both of which are believed to be diagnostic for CJD, have been reported. However, a confirmatory diagnosis of CJD requires neuropathologic and/or immunodiagnostic testing of brain tissue obtained either at biopsy or autopsy.


Treatment of prion diseases remains supportive; no specific therapy has been shown to stop the progression of these diseases. Medical management focuses on keeping people with these diseases as safe and comfortable as possible, despite progressive and debilitating symptoms.


Few other prion diseases are-

  • Gerstmann-Straussler-Scheinker Syndrome

  • Fatal Familial Insomnia

  • Kuru


REFERENCES-

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