Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single 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,...
Genome-wide Association Studies-GWAS01:11

Genome-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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Free Recall Outperforms Story Recall in Associations with Plasma Biomarkers in Preclinical Alzheimer Disease.

The journal of prevention of Alzheimer's disease·2024
Same author

Development of MAPT S305 mutation models exhibiting elevated 4R tau expression, resulting in altered neuronal and astrocytic function.

bioRxiv : the preprint server for biology·2023
Same author

Axonal damage and astrocytosis are biological correlates of grey matter network integrity loss: a cohort study in autosomal dominant Alzheimer disease.

medRxiv : the preprint server for health sciences·2023
Same author

Associations of Stages of Objective Memory Impairment with Cerebrospinal Fluid and Neuroimaging Biomarkers of Alzheimer's Disease.

The journal of prevention of Alzheimer's disease·2023
Same author

17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease are associated with LRRC37A/2 expression in astrocytes.

Molecular neurodegeneration·2022
Same author

Editorial: How Will Aducanumab Approval Impact AD Research?

The journal of prevention of Alzheimer's disease·2021

Related Experiment Video

Updated: Jul 24, 2026

Associated Chromosome Trap for Identifying Long-range DNA Interactions
14:49

Associated Chromosome Trap for Identifying Long-range DNA Interactions

Published on: April 23, 2011

Association studies using novel polymorphisms in BACE1 and BACE2.

P Nowotny1, J M Kwon, S Chakraverty

  • 1Department of Psychiatry (B8134), Washington University School of Medicine, 660 S. Euclid, St. Louis, MO 63110-1093, USA.

Neuroreport
|July 4, 2001
PubMed
Summary

Researchers investigated genetic variations in BACE1 and BACE2 enzymes, crucial for amyloid-beta peptide production. A weak link between a BACE1 gene polymorphism and Alzheimer's disease (AD) was found in APOE epsilon4 carriers.

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Related Experiment Videos

Last Updated: Jul 24, 2026

Associated Chromosome Trap for Identifying Long-range DNA Interactions
14:49

Associated Chromosome Trap for Identifying Long-range DNA Interactions

Published on: April 23, 2011

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Amyloid-beta peptide (Abeta) accumulation is a hallmark of Alzheimer's disease (AD).
  • The release of Abeta from its precursor protein (APP) involves enzymatic cleavage by beta- and gamma-secretases.
  • BACE1 is the primary beta-secretase responsible for initiating Abeta production.

Purpose of the Study:

  • To sequence the genes encoding BACE1 and BACE2, identifying potential genetic variations.
  • To investigate the association between polymorphisms in BACE1 and BACE2 genes and the risk of developing Alzheimer's disease.

Main Methods:

  • Gene sequencing of BACE1 and BACE2 to identify polymorphisms.
  • Genotyping analysis of a large cohort comprising AD patients and healthy controls.
  • Statistical analysis to determine the association between identified polymorphisms and AD, considering APOE epsilon4 status.

Main Results:

  • Several polymorphisms were identified in both the BACE1 and BACE2 genes.
  • No significant association was found between an intronic polymorphism in the BACE2 gene and Alzheimer's disease.
  • A weak association was observed between a specific BACE1 polymorphism in exon 5 and AD risk, particularly in individuals carrying the APOE epsilon4 allele.

Conclusions:

  • Genetic variations in BACE1 and BACE2 may influence Alzheimer's disease susceptibility.
  • The BACE1 gene polymorphism in exon 5, in conjunction with the APOE epsilon4 allele, represents a potential risk factor for AD.
  • Further research is warranted to elucidate the functional impact of these genetic variations on Abeta production and AD pathogenesis.