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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.1K
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...
15.1K
Genetic Lingo01:11

Genetic Lingo

113.1K
Overview
113.1K
Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

1.4K
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
1.4K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.4K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.4K

You might also read

Related Articles

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

Sort by
Same author

miRNA family miR-29 inhibits PINK1-PRKN signaling via ATG9A.

Molecular neurodegeneration advances·2026
Same author

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.

Nature genetics·2026
Same author

Describing the diversity of <i>MAPT</i> transcripts in the parietal cortex of Pick's disease patients.

NPJ dementia·2026
Same author

Novel Aggressive Subtype of Multiple System Atrophy Identified by Unsupervised Machine Learning.

Annals of neurology·2026
Same author

The Assessment of RAB32 p.Ser71Arg Variant Prevalence in Parkinson's Disease Across Selected African, European, and South American Cohorts.

Movement disorders : official journal of the Movement Disorder Society·2026
Same author

Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease.

Annals of neurology·2025

Related Experiment Video

Updated: Dec 16, 2025

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
12:28

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Published on: June 3, 2020

18.0K

GBA variation and susceptibility to multiple system atrophy.

Anna I Wernick1, Ronald L Walton2, Shunsuke Koga2

  • 1Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Faculty of Biology, Medicine and Health, University of Manchester, Manchester, Greater, Manchester, UK.

Parkinsonism & Related Disorders
|July 6, 2020
PubMed
Summary

Genetic variants in the glucocerebrosidase (GBA) gene are linked to synucleinopathies. While not all GBA variants increase risk for multiple system atrophy (MSA), the p.T408M variant shows a significant association with MSA susceptibility.

Keywords:
GBAGeneticsMultiple system atrophy

More Related Videos

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.6K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.1K

Related Experiment Videos

Last Updated: Dec 16, 2025

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
12:28

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Published on: June 3, 2020

18.0K
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.6K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.1K

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Genetic variants in the glucocerebrosidase (GBA) gene are established risk factors for Lewy body disease.
  • The association between GBA variants and multiple system atrophy (MSA), another synucleinopathy, is less confirmed.
  • This study investigates the role of exonic GBA variants in the risk of neuropathologically confirmed MSA.

Purpose of the Study:

  • To evaluate the association between exonic variants in the GBA gene and the risk of developing multiple system atrophy (MSA).
  • To determine if specific GBA variants, including common and rare ones, contribute to MSA susceptibility.

Main Methods:

  • Sanger sequencing of the GBA gene was performed on 167 pathologically confirmed MSA patients.
  • Whole-genome sequencing data from 834 clinical controls were utilized for comparison.
  • Gene-burden tests were employed to assess the association of collapsed GBA variants with MSA risk.

Main Results:

  • Seventeen exonic GBA variants were identified, including a novel likely pathogenic p.Q112X variant in an MSA patient.
  • Common Gaucher's disease-associated variants (p.N409S, p.L483P) were not found in MSA patients.
  • A significant association between any GBA variant and MSA risk was observed (OR=1.90, P=0.031), primarily driven by the p.T408M variant (OR=4.21, P=0.002).
  • No significant association was found for the p.E365K variant (OR=0.79, P=0.72).

Conclusions:

  • Coding GBA variants, except for the specific p.T408M variant, are not significantly associated with an increased risk of multiple system atrophy (MSA).
  • The p.T408M variant in the GBA gene represents a potential risk factor for MSA.
  • Further research is warranted to elucidate the precise mechanisms linking GBA variants to MSA pathogenesis.