-Caveat Lector-
PRIONS.
Form of Fatal Insomnia Discovered
By KATHARINE WEBSTER
.c The Associated Press
Researchers have discovered a brain-wasting disease that begins with severe
insomnia and ends in hallucinations and death.
The disease, sporadic fatal insomnia, is caused by the same type of deformed
proteins, known as prions, that cause mad cow disease and its human variant,
Creutzfeldt-Jakob disease, according to two studies.
There is no known treatment or cure. It is not clear what causes the disease,
but scientists know it is not inherited. And unlike one type of
Creutzfeldt-Jakob disease, it is not believed to come from infected meat.
Instead, scientists suspect it is caused by a spontaneous mutation in a
single brain or nerve cell.
So far, they have identified only six cases of the disease, but there could
be others that were misdiagnosed as other mind-destroying illnesses such as
Alzheimer's disease.
Prions are proteins with Jekyll-and-Hyde personalities that cluster in the
brain. When their molecules are folded into the correct shape, prions are
benign, though no one knows their function.
Folded the wrong way, prions induce other proteins to mimic them. The
misfolded prions then accumulate in parts of the brain, causing the tissue to
break down and become full of holes, like a sponge.
Different prion diseases attack different parts of the brain, causing
characteristic types of dementia and death.
Some are infectious, like mad cow disease in cattle and scrapie in sheep and
goats. In humans, prion diseases are either inherited, caught from eating
contaminated meat, or spontaneous.
Researchers have previously identified an inherited prion disorder whose main
symptom is sleeplessness, called fatal familial insomnia.
In a case outlined in Thursday's New England Journal of Medicine, a
44-year-old patient had all the symptoms of the inherited disease, including
prions with the same ``signature,'' but did not have the inherited mutation.
The case was reported by Dr. James Mastrianni, a neurologist at the
University of Chicago.
The spontaneous, or sporadic, versions of the prion diseases are rare, but
more common than their inherited counterparts.
Prions are still controversial. Some researchers believe it is impossible for
proteins to replicate and cause disease, since they do not contain genetic
material. These researchers believe the diseases are instead caused by
as-yet-undiscovered viruses.
However, the new studies add to evidence the infection is caused by the
abnormal shape of the prions, not another agent, Drs. Pierluigi Gambetti and
Piero Parchi of Case Western Reserve University said in an accompanying
editorial.
Gambetti and Parchi have described five similar cases of non-inherited fatal
insomnia in a study scheduled to appear in the journal Neurology.
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