Mysteries of Science and Philosophy

Article excerpt


D.T. Max has written a book, The Family That Couldn't Sleep: A Medical Mystery (Random House, $25.95, 336 pages), about a few diseases transmitted via prions, wayward protein molecules that disable their victims by distorting the shape of the normal protein molecules in their brains, multiplying rapidly as they do this.

Mr. Max's compelling narrative describes the gruesome details of these diseases, explains the painstaking detective work of the researchers who identified them and elucidated the hitherto unknown way they damage humans and animals, and vividly portrays both victims and researchers.

The least known of these diseases, Fatal Familial Insomnia (FFI), is an extremely rare (found so far in just 28 families around the world) genetic malformation. Its symptoms, most notably total insomnia and, eventually, dementia, usually develop between ages 30 and 60. The disease runs its course over a period varying from a few months to three years and is invariably fatal.

Mr. Max shows how FFI has affected successive generations of an Italian family since at least the mid-1700s, when an upper-class Venetian doctor seems to have been the first recorded victim. He follows the family history through to the present, sketching the fates of victims in successive generations and different branches of the family.

Interspersed between the chapters dealing with FFI are discussions of other prion-caused diseases in humans and animals, and how researchers closed in on their common mechanism by noticing the similarity of their effects.

All these diseases wreak destruction on their victims' brains, giving them spongy texture due to numerous microscopic holes. The first to be observed was scrapie, which makes sheep act in bizarre ways, including scraping themselves on available surfaces hence the name, coined by Scottish shepherds in the 18th century. Fortunately, scrapie is not transmissible to humans.

The best known of the diseases is mad cow disease, formally termed bovine spongiform encephalopathy (BSE, for short). Mad cow affects cows in a way similar to scrapie in sheep. To date, says Mr. Max, it has infected some 800,000 British cows and 160 British citizens who were unfortunate enough to eat part of the brain or spine of an affected animal.

In humans, it is known as variant Creutzfeldt-Jakob disease (CJD) because of its similarity to another extremely rare brain disease identified in the first half of the 20th century. CJD affects a tiny number of people (about one in a million), but an outbreak of the variant version occurred among Englishmen who had eaten British beef coming from cows that had been fed with meal containing ground up parts of affected cows.

Mr. Max details how long it took to establish the nature and cause of the disease, partly because the British agricultural establishment tried to minimize knowledge of its prevalence and provenance.

Kuru, another prion disease, is limited to members of the Fore tribe in New Guinea. The Fores, a culturally flexible group, learned about cannibalism from other tribes comparatively recently, and took to it enthusiastically. They did not waste any body parts of their deceased friends and relatives, including their brains, some of which were diseased.

The propagation of kuru ceased half a century ago, after missionaries and the Australian colonial authorities put an end to cannibalism, although cases still crop up among Fore old enough to have indulged in the gory celebrations.

Mr. Max describes how Carleton Gajdusek, a young American medical researcher in search of the exotic, studied kurufor years and won the 1976 Nobel Prize in Medicine for establishing the existence of "slow viruses" that took decades to affect victims. However, Mr. Gajdusek missed the connection between kuru and cannibalism, which was established by a pair of Australian anthropologists. …