Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease
Abstract
The spongiform encephalopathy Creutzfeldt-Jakob disease (CJD) has been transmitted to man via administration of growth hormone and gonadotropin extracted from large pooled batches of human cadaveric pituitary glands. In the UK, 1908 individuals were exposed to potentially contaminated growth hormone, of whom 6 have so far manifested CJD. Examination of the prion protein genes of all these cases and of a single case of gonadotropin-related CJD showed that 4 had the uncommon valine 129 homozygous genotype indicating genetic susceptibility to prion infection. Such genetic susceptibility may be important in the aetiology of sporadic CJD disease.
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Multiple mutations in the PRNP gene have been linked to various phenotypes of hereditary, sporadic, and iatrogenic CJD.
“Multiple mutations in the PRNP gene have been linked to various phenotypes of hereditary, sporadic, and iatrogenic CJD (25, 26).”
From Kuru (2012) · cites this paper as [26]
Codon 129 heterozygosity is protective against the development of iatrogenic and sporadic Creutzfeldt-Jakob disease and kuru.
“Codon 129 heterozygosity is protective against the development of iatrogenic 8 and sporadic 9 Creutzfeldt-Jakob disease and kuru 3,[10][11][12] ;”
From A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure (2009) · cites this paper as [8]
Cited by
Sorted by citations
The genetic epidemiology of neurodegenerative disease
Bertram, L. (2005) · Journal of Clinical Investigation · doi:10.1172/jci24761 · Cited by 680 · see citing works
Kuru in the 21st century—an acquired human prion disease with very long incubation periods
Collinge, J., Whitfield, J., McKintosh, E., Beck, J., Mead, S., Thomas, D. J., & Alpers, M. P. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68930-7 · Cited by 427 · see citing works
Self-citationA Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure
Mead, S., Whitfield, J., Poulter, M., Shah, P., Uphill, J., Campbell, T., Al-Dujaily, H., Hummerich, H., Beck, J., Mein, C. A., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0809716 · Cited by 206 · see citing works
Self-citationLiberski, P. P., Sikorska, B., Lindenbaum, S., Goldfarb, L. G., McLean, C., Hainfellner, J. A., & Brown, P. (2012) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3182444efd · Cited by 50 · see citing works
“Multiple mutations in the PRNP gene have been linked to various phenotypes of hereditary, sporadic, and iatrogenic CJD (25, 26).”
BackgroundPrion genotypes in Central America suggest selection for the V129 allele
Hardy, J., Scholz, S., Evans, W., Goldfarb, L., & Singleton, A. (2006) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30248 · Cited by 7 · see citing works
- Authors
- Collinge, J., Palmer, M. S., & Dryden, A. J.
- Affiliations
- St Mary's Hospital (GB)
- ORCID
- Collinge, J.
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 1991-06
- Volume
- 337
- Issue
- 8755
- Pages
- 1441-1442
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W1972777213
- Cited by
- 556
- References
- 0
- Citations by year
- 2026: 2 · 2025: 8 · 2024: 16 · 2023: 7 · 2022: 9 · 2021: 9 · 2020: 6 · 2019: 7 · 2018: 6 · 2017: 9 · 2016: 12 · 2015: 6 · 2014: 12 · 2013: 13 · 2012: 15
- FWCI
- 8.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Wellcome Trust
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Prion Diseases and Protein Misfolding
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Amyloidosis: Diagnosis, Treatment, Outcomes
- Keywords
- Creutzfeldt-Jakob disease, iatrogenic transmission, growth hormone, gonadotropins, prion protein gene, PRNP genotype, genetic susceptibility, spongiform encephalopathy
- MeSH terms
- Alleles, Disease Susceptibility, DNA, Gonadotropins, Pituitary, Homozygote, Humans, Iatrogenic Disease, Creutzfeldt-Jakob Syndrome, Growth Hormone, Valine, Viral Proteins, Polymerase Chain Reaction, PrPSc Proteins
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