Related Experiment Video
Updated: May 30, 2026
12:57
Investigating the Spreading and Toxicity of Prion-like Proteins Using the Metazoan Model Organism C. elegans
Published on: January 8, 2015
Genome wide association studies and prion disease
1National Prion Clinic, UCLH NHS Trust, London, UK.
Prion
|August 17, 2011
Summary
Advances in gene discovery technologies have identified numerous disease associations. This review focuses on their impact on prion diseases, highlighting methods and future directions in genetic research.
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- Recent technological advancements in genotyping and sequencing have accelerated gene discovery for various diseases.
- Next-generation sequencing enables identification of recessive mutations in rare inherited disorders.
Purpose of the Study:
- To review the impact of gene discovery methods on prion disease research.
- To discuss current and future genetic study approaches in prion diseases.
Main Methods:
- Analysis of quantitative trait loci (QTL) in mouse models and their human homologs.
- Functional candidate gene region selection.
- Genome-wide association studies (GWAS) in variant Creutzfeldt-Jakob disease (vCJD) and sporadic CJD (sCJD).
Main Results:
- Identification of potential gene associations like HECTD2, CPNE8, SPRN, and CTSD.
- GWAS in vCJD and ongoing studies in sCJD show findings near statistical significance thresholds.
- Specific gene regions like THRB-RARB and STMN2 are under investigation.
Conclusions:
- Gene discovery technologies are significantly impacting prion disease research.
- Future research will integrate animal and human genetic data, expand GWAS, and utilize next-generation sequencing for exome/genome-wide analysis.
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
03:03Amyloid Fibrils
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
01:23Investigation of Disease Outbreaks
Multistate foodborne outbreaks pose significant public health risks and require meticulous investigation to identify sources and implement control measures. The Centers for Disease Control and Prevention (CDC) utilizes a dynamic seven-step process for these investigations, integrating data from laboratories, interviews, and environmental assessments to protect public health.Outbreak Detection: The detection of multistate outbreaks typically begins with PulseNet, the CDC's national laboratory...