"MAD COWS", ENGLISHMEN AND THE PRION HYPOTHESIS

by Dorothy B. Preslar, Director AHEAD/ILIAD programs

Introduction
The Prion Hypothesis

Note:

According to information published by the World Health Organization in March 1999, there had been 39 cases of the new variant CJD disease diagnosed since 1994. Information from other sources indicate approximately 75 cases through March 2000, with fatalities in at least 90% of the cases.

Introduction

In March 1996 the public was startled by a statement made to the British Parliament that ten recent cases of a rare brain disease in the UK might be linked to a similar disease in cattle. The human disease found in the cases is a variant form of Creutzfeldt-Jakob Disease (CJD), which was recognized before the turn of the 20th Century and kills one person out of a million world wide per year. The cattle disease is Bovine Spongiform Encephalopathy (BSE), which was first diagnosed in the UK in 1986 and subsequently in other countries. It was initially believed to have resulted from feeding healthy cattle the remains of sheep killed by a related disease called Scrapie.

For at least a decade, the UK and other countries have taken a number of actions to reduce the incidence, or prevent the occurrence, of BSE. Notwithstanding the similarities of the disease in animals and humans, the possibility that it could be transmitted from cow or sheep to man, by any means, was generally accepted as close to zero; the principal reason being the natural barrier to such cross-infectivity between animals and man. However, an article by evolutionary biologist David Krakauer and others, hypothesizes that the barrier may be less than total (Nature, 25 April, 1996, p. 675). Proof that BSE has crossed the barrier would, according to a 1996 communication from Dr. Tom Pringle, involve a demonstration "by immunofluorescence that traces of rogue cow protein is present in human victims." Such a demonstration has not yet been made.

In animals other than cattle, sheep and goats, the disease is usually r eferred to as Transmissible Spongiform Encephalopathy (TSE) and includes Chronic Wasting Disease that affects mule deer and elk, and is present in the US. The feline type (FSE) affects domestic cats and TME (transmissible mink encephalopathy) affects...mink, of course. TSE has been found in zoological specimens: in Great Britain, for example, confirmed cases include six kudus, five eland, a nyala and a gemsbok, one Arabian oryx, one puma, one scimitar-horned onyx, one ocelot and four cheetah; in Germany t here were 3 ostriches. Infection in all cases is believed to have resulted from feed containing the remains of animals infected by some form of TSE.

There are five known human forms of the disease -- CJD, nvCJD (the newly recognized varient of CJD (NV-CJD), kuru, Gerstmann-Straussler Syndrome (GSS) and Fatal familial insomnia. There are three forms of Classic CJD -- sporadic, inherited and infective. Sporadic CJD is the most prevalent. Until the appearance in the UK of a CJD-type disease in persons whose average age is 26.5, it was considered a disease of men and women dying over the age of 45 and was, thus, thought to be a result of genetics or ageing, or both. The inherited form, Gertsmann-Straussler, represents 10-15 percent of confirmed cases; 100 families have thus far been identified. The infective form is rare -- about 80 cases. Fatal familial insomnia (FFI) is likewise considered to be caused by a mutated gene in about 9 families.

Kuru (from a Pacific Islander word meaning "tremble") was, about a quarter of a century ago, initially ascribed to a tribal custom of eating the brains of a deceased relative, although in-depth analysis of the cases showed more cases in females who prepared the brains than in males who ate them. Since 1957 about 2,600 cases have been identified, but less than 10 cases in 1995. The newly recognized form, nvCJD, resembles kuru, both pathologically and clinically, more than it does Creutzfeldt-Jakob.

Common to all types of the disease -- both human and animal -- is the progressive deterioration of the brain. The overt symptoms are loss of coordination (insomnia in FFI) followed by dementia, although in some CJD cases the sequence is reversed. Under the microscope, tissue specimens appear as if holes have been randomly drilled through on a horizontal plane -- like Swiss cheese or, in a more subtle analogy, like a sponge. Hence the name spongiform encephalopathy. Once the disease is overt, the patient can expect to live about one year; the span is one month to more than 10 years.

Until recently, it was not thought that human CJD could be diagnosed before death. Tonsil biopsy samples have recently been used in investigation. And there have been claims for a test using cerebrospinal fluid that not only diagnoses CJD but also distinguishes it from Alzheimers, which has similar symptoms. However, validating such tests requires carrying it out in a substantial number of clinically suspected CJD cases and comparing the results with those of subsequent postmortem histopathological examination of brains, and finding a very high degree of correlation.

As to what is the immediate cause of spongiform encephalopathy, in the past three decades research has focused on the "prion hypothesis" -- that a naturally occurring protein has "gone bad", changing a normally harmless "prion protein" into a dangerous, protease-resistant form. Probably the best explanation of prions for laypersons appeared in the January 1995 issue of Scientific American in an article written by Stanley B. Prusiner, the leading proponent of, and winner of a Nobel Prize in 1997 for, the prion hypothesis.

THE PRION HYPOTHESIS

[Note: This is an attempt at an explanation intended to be understandable by non-scientists as well as scientists. The latter will recognize that some of the matters briefly described are more complex than it is possible to indicate here, and that research is continually bringing new knowledge in this field.]

Increasingly, research is confirming the hypothesis of Stanley Prusiner and his colleagues, that in transmissible spongiform encephalopathies (such as BSE in cattle and CJD in humans) the infective agents are abnormal, distorted PRIONS. A prion (PrP) is a small protein molecule found in the brain cell membrane. It is not "live" -- it has no associated DNA. "Prion" is a generic term. Different species have brain cell proteins of different compositions. For example, the human prion differs by 30 different amino acids from the cattle prion.

Protein molecules have three-dimensional folded shapes. An infective prion (PrPsc) is one whose shape has become distorted (misshapen). [The PrPsc designation originally referred to sheep scrapie prions, but is now used as a generic designation for all kinds of infective prions.] The distorted shape is protease-resistant, i.e. it is not broken down into amino acids in the digestive system. It is also highly resistant to normal heating and to normal sterilants.

When a distorted prion molecule reaches (by whatever route) the prions in the brain cell membrane of a "host" individual, that molecule is able to act as a three-dimensional "template" to cause a normal prion molecule to adopt a similar distorted shape; and that in turn is able to act as a template to do the same to another normal prion molecule; and so on.

One familiar example of a template is the three-dimensional Jello (or jelly) mold, which causes the surface of the jelly in contact with the mold to "set up" in exactly the same shape as the mold. Another, but only two-dimensional, example is the dressmaker's paper patterns that enable the cloth to be cut to their exact sizes and shapes.

Distorted and infective BSE prions probably first arose from the inclusion of scrapie-infected sheep offals in feed for cattle, and probably also from inclusion of offals from cattle suffering from previously unrecorded cases of BSE at low incidence level, amplified by subsequent "re-cycling" of infected cattle offals in cattle feed. There is currently no conclusive evidence of vertical transmission in animals, as in mother to offspring transmission.

CJD prions are likewise misshapen human brain prions. They may arise
  • from a genetic predisposition of an individual
  • by transfer from a person with (or incubating) CJD, via instruments used in nerosurgery, opthalmological prodecures, dental work or caesarian birth deliveries not sufficiently autoclaved after prior use
  • from injection of human pituitary gland extract from corpse pituitary glands from persons who had died from CJD (used as growth stimulants, as happened before synthetic material became available); or
  • possibly from transfusion of CJD-infected blood or entry through cuts and abrasions on those who handle infected animal carcasses.

    There is no scientific evidence that CJD prions can be caused by BSE prions; i.e. no scientific evidence that BSE-infective prions can act as a shape template to cause distortion in normal human prions. Thus, there is no evidence that eating red meat increases the chance of contracting nvCJD. There are, however, representations in folklore that eating too much beef can "addle" the brain. Such a belief was popular at the end of the 16th Century. In Shakespeare's "Twelfth Night" (Act One, Scene Two), Sir Andrew says "Methinks sometimes I have no more wit than a Christian or an ordinary man has, but I am a great eater of beef, and I believe that does harms to my wit." "No question." replies Sir Toby.