HECTD2 and Prion Disease Susceptibility
Author Information
Author(s): Lloyd Sarah E., Maytham Emma G., Pota Hirva, Grizenkova Julia, Molou Eleni, Uphill James, Hummerich Holger, Whitfield Jerome, Alpers Michael P., Mead Simon, Collinge John
Primary Institution: MRC Prion Unit, University College London Institute of Neurology
Hypothesis
Does the HECTD2 gene influence susceptibility to prion diseases in humans and mice?
Conclusion
The study found that HECTD2 is associated with susceptibility to prion diseases in both mice and humans.
Supporting Evidence
- HECTD2 haplotypes were significantly associated with susceptibility to vCJD and kuru.
- Genotype-associated differential expression of Hectd2 mRNA was observed in mouse brains.
- Significant up-regulation of Hectd2 was noted in mice at the terminal stage of prion disease.
Takeaway
Scientists found a gene called HECTD2 that can make people and mice more likely to get prion diseases, which are serious brain illnesses.
Methodology
The study used a heterogeneous stock of mice and human samples to analyze the association of HECTD2 with prion disease susceptibility.
Potential Biases
Potential bias due to the small sample sizes in specific groups.
Limitations
The study's sample sizes for sporadic and variant CJD were small, which may affect the robustness of the findings.
Participant Demographics
The study included 118 vCJD patients, 458 sporadic CJD patients, and 151 kuru patients from Papua New Guinea.
Statistical Information
P-Value
0.0008
Confidence Interval
95% CI 1.19–3.77
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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