Iatrogenic Creutzfeldt-Jakob disease: An example of the interplay between ancient genes and modern medicine

Brown, P., Cervenáková, L., Goldfarb, L. G., McCombie, W. R., Rubenstein, R., Will, R. G., Pocchiari, M., Martinez-Lage, J. F., Scalici, C., Masullo, C., Graupera, G., Ligan, J., Gajdusek, D. C. (1994) Iatrogenic Creutzfeldt-Jakob disease: An example of the interplay between ancient genes and modern medicine. Neurology, 44 (2). pp. 291-293. ISSN 00283878 (ISSN)

Abstract

We tested DNA from 15 centrally infected cases of iatrogenic Creutzfeldt- Jakob disease (CJD) (dura mater or corneal homografts and stereotactic EEG electrodes), 11 peripherally infected cases (native human growth hormone or gonadotrophin), and 110 control individuals for the presence of mutations in the chromosome 20 amyloid gene. No patient or control had any of the known pathogenic point or insert mutations found in familial disease, but allelic homozygosity at polymorphic codon 129 was present in all but two (92%) of the 26 patients, compared with 54 (50%) of the 110 controls (p < 0.001). Pooled data from all identified and tested cases of iatrogenic disease yielded a worldwide total of 56 patients, of whom all but four were homozygous at codon 129 (p < 0.001). These findings support the thesis that homozygosity at codon 129 enhances susceptibility to iatrogenic infections of both central and peripheral origin, with evident implications for the population of dura mater homograft and pituitary hormone recipients whose lives have been complicated by the possibility of exposure to the infectious agent of CJD.

Item Type:	Paper
Uncontrolled Keywords:	article chromosome 20 clinical article controlled study creutzfeldt jakob disease disease predisposition gene mutation homozygosity human human tissue iatrogenic disease priority journal Amyloid Base Sequence Brain Chromosomes, Human, Pair 20 Codon Comparative Study Corneal Transplantation Creutzfeldt-Jakob Syndrome Deoxyribonucleases, Type II Site-Specific DNA DNA Primers Dura Mater Electroencephalography Genotype Gonadotropins Growth Hormone Homozygote Methionine Molecular Sequence Data Open Reading Frames Point Mutation Restriction Mapping Transplantation, Homologous Valine
Subjects:	bioinformatics > genomics and proteomics > analysis and processing bioinformatics > genomics and proteomics > analysis and processing > codon processing bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > DNA expression bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification diseases & disorders bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics organs, tissues, organelles, cell types and functions > organs types and functions > brain bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > chromosome bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > chromosomes, structure and function > chromosome bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > chromosomes, structure and function bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > genes, structure and function diseases & disorders > mental disorders > genetic disorders organs, tissues, organelles, cell types and functions > organs types and functions organs, tissues, organelles, cell types and functions
CSHL Authors:	McCombie, W. Richard
Communities:	CSHL labs > McCombie lab
Depositing User:	Matt Covey
Date:	1994
Date Deposited:	25 Apr 2013 13:35
Last Modified:	25 Apr 2013 13:35
Related URLs:	Publisher
URI:	https://repository.cshl.edu/id/eprint/28223

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