Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease

Article Abstract:

Creutzfeldt-Jakob disease (CJD) is a neurodegenerative disease of a class referred to as the spongiform encephalopathies. The disease can be transmitted experimentally and has also been transmitted accidentally. The causative agent in these transmissions is unlike any well characterized infectious agent and is referred to by many as a prion. Creutzfeldt-Jakob disease may occur in families, but is usually sporadic. The incidence of Creutzfeldt-Jakob disease is about one or two cases per million people. However, among Jews from Libya, the incidence is 100 times higher. Many possible explanations have been put forward to account for this unusually high incidence, but none has sustained any scrutiny. One of the more popular notions was that the eating of sheep brains, a popular delicacy in the region, infected people with scrapie, a prion disease of sheep similar to CJD. However, the eating of sheep brain is popular throughout the Mediterranean, and cannot explain the specificity of the increased incidence to Libyan Jews. Mediterranean sheep, if anything, have a lower rate of scrapie than other areas of Europe and North America. A study was undertaken to determine if the increased incidence of CJD among these people might be accounted for by genetic factors. The prion protein genes were analyzed in 11 Libyan Jews with Creutzfeldt-Jakob disease. Investigation of one patient revealed that a mutation had occurred in the 200th codon of the gene, that is, the 200th set of three DNA bases. The net result of this change would be to substitute a lysine for glutamine in the resulting protein. After this mutation was identified, it was confirmed in the other 10 Libyan patients. It is interesting to note that the mutation was not present in a Moroccan Jew with CJD. The results suggest that the increased incidence of Creutzfeldt-Jakob disease in this population is the result of a gene carried by this group. In eight of the present cases, a family history of CJD could be confirmed. Although not all families were cooperative in providing information of the ancestral heritage, all the families for which such information was available could be traced to Djerba, which is an island off the coast of Tunisia. (Consumer Summary produced by Reliance Medical Information, Inc.)

Genetic aspects, Mutation (Biology), Mutation, Creutzfeldt-Jakob disease, Spongiform encephalopathy, Nervous system diseases

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Prion protein conformation in a patient with sporadic fatal insomnia

Article Abstract:

The case of a 44-year-old man illustrates that people can develop a non-hereditary form of familial fatal insomnia. This condition, which is characterized by severe insomnia as well as other symptoms, belongs to a class of diseases called prion diseases. Mad cow disease and Creutzfeldt-Jakob disease are also prion diseases. Prion diseases occur when the normal prion protein in the brain becomes abnormal. This can be caused by mutations in the prion gene. However, even though this man had abnormal prion protein, his prion gene was normal. This indicates that the conformation of the protein is abnormal rather than the amino acid sequence.

Case studies, Prions, Prions (Proteins), Insomnia

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Neurodegenerative diseases and prions

Article Abstract:

Most neurodegenerative diseases are caused by excessive production of an abnormal version of a normal protein. The abnormal form accumulates in the brain, causing most of the symptoms. Prion diseases are one type of neurodegenerative disease that is called scrapie in sheep, bovine spongiform encephalopathy in cows, and Creutzfeldt-Jakob disease in humans.

Analysis, Nervous system, Nerve degeneration

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