Ok, relax! You DON’T have this. Only forty maybe fifty families world-wide are affected by this rare, I mean really rare, autosomal dominant genetic disorder. Genes inherited in an autosomal dominant fashion mean that offspring have a 50/50 chance of chance of being stricken with the disease. With Fatal Familial Insomnia (FFI), once the genetic switch has been flipped (usually at midlife) there is no turning back, no cure and no treatment. Sleepless night inexorably follows sleepless night. Finally, five to nine months later the afflicted lapse into an irreversible coma and die - sweet release. Sedatives, sleeping pills only make it worse and hasten the inevitable. Sominex just doesn’t cut it.
So why bother. Why waste valuable research money on such an incredibly rare disease anyway?Because FFI is one of a handful of prion-mediated diseases. Prions are proteinaceous infectious particles lacking nucleic acid. Generally speaking prions break all the rules regarding biological life forms as we know it. Nevertheless, they exist and native forms are found naturally in the brains of all mammals. A mutant prion however will replicate unchecked, decimating the brain in process. The end result is a brain filled with holes, sponge-like (spongiform) and demented.
Other prion-mediated diseases you may have heard of include:
Bovine-Spongiform Encephalopathy (Mad Cow)
Creutzfeld-Jakob Disease
v-CJD (variant Creutzfeld-Jakob Disease)
Scrapie
All of the prion-mediated diseases are characterized by a rapid onset of dementia and death. Cows get it (Mad Cow), sheep get it (Scrapie), we get it, (CJD, FFI).
Still, all of the above are exceedingly rare diseases and soon new high-tech, silicon nano-sensors that change vibrational frequency when prions bind will be available to detect Mad Cow disease before it shows up at the local meat market.
As it turns out, understanding how rogue prions cause disease may be the key to understanding all neurodegenerative disorders.
Cholesterol metabolism within the brain is carefully regulated and with very good reason. Cholesterol synthesis exerts exquisite control over cell membrane function and cell signaling (cell-to-cell communication). When prions are allowed to replicate unchecked, cell membrane function suffers and as a result the enzyme phospholipase A2 becomes hyperactive. Activated phospholipase A2 triggers a flood of inflammatory mediators with the conversion of arachidonic acid to leukotrienes.
Bingo, presto (stir and mix over a life-time) add massive amounts of damage due to neuroinflammation and you have the makings of Alzheimer’s disease, Parkinson’s disease, Multiple Sclerosis and a whole host of other dementias and neurodegenerative disorders.
Don’t let all of this keep you awake at night though! Here (finally I know), is the take-home message…
Get your cholesterol checked. Ask for a VAP test to measure all the parameters of cholesterol synthesis. Ask your doctor to measure a simple bio-marker for inflammation called hs-CRP and with your doctor’s permission, take 81 mg of aspirin a day. Feast daily on antioxidant and polyphenol-rich foods , sleep tight, manage your stress, and when the silicon-based nano-sensors become available, I’ll let you know.
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