Fatal Familial Insomnia Research

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Studies have shown a balanced diet, regular exercise and at least six to eight hours of sleep can help lead a healthy and productive life. Removing rest from this formula can greatly diminish one’s health. Some of the many repercussions of lack of sleep can include stroke, loss of memory, diabetes, or even a heart attack. (http://www.webmd.com/sleep-disorders/excessive-sleepiness-10/10-results-sleep-loss). Now imagine that the ability to sleep isn’t even a possibility, that one is stuck between a never ending ability to stay awake and death. This condition is known as Fatal Familial Insomnia. Fatal Familial Insomnia (FFI) is an extremely rare, hereditary prion disease that carries a death sentence. The average life expectancy from showing symptoms of the disease to death is on average 18 months, but can be anywhere from 7 – 36 months (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1781306/).
The brain naturally has cellular prion protein (PrPc) that have normal turnover – they are regularly destroyed by the host cell proteases, and new ones are synthesized. The infectious prion proteins (PrPsc) are less susceptible to the host cell’s proteases, so the number of infectious prions builds up in the brain. Although it has not been proven, it has been hypothesized that PrPsc interacts directly with PrPc and converts the normal prion’s properties into an infectious prion (Nestor, et al). Prion proteins tend to accumulate in neural tissue – causing the brain tissue to develop transmissible spongiform encephalopathies. These are basically holes that develop in brain tissue that creates a “spongelike appearance” (Nestor et al). Examples of prion diseases include Mad Cow Disease, Creutzfeldt - Jakob disease (CJD) and Fatal Familial Inso...

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...nt was alert and responded to questions. The continued use of this medication worked well for two weeks, but in the third week the patient developed fevers and restlessness and then eventually died (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1781306/).
There are several studies happening at sleep clinics all over the world trying to find appropriate treatment and the potential eradication of FFI, but so far there is no known cure. There of course are blood tests that can determine if a person has the gene, but since there is no treatment for this disease ultimately the patient must decide if they want to know their estimated and possibly reduced life expectancy.
As time progresses, the cure for FFI and other prion diseases are still to be determined. Until science truly understands prions and their effects on the human body, a cure for these may not be in reach.

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