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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.0K
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%...
17.0K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

13.9K
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,...
13.9K
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

429
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
429
Neural Regulation01:37

Neural Regulation

39.1K
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
39.1K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.3K
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...
12.3K
Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

187
Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
187

You might also read

Related Articles

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

Sort by
Same author

Parkinson's disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implications.

The Lancet. Neurology·2026
Same author

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

medRxiv : the preprint server for health sciences·2026
Same author

<i>GCH1</i> p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations.

medRxiv : the preprint server for health sciences·2026
Same author

Sex-biased Genetic Risk Loci and Causal Brain Proteins in Parkinson's Disease.

medRxiv : the preprint server for health sciences·2026
Same author

Multi-ancestry analysis of <i>POLG</i> variants in Parkinson's disease.

medRxiv : the preprint server for health sciences·2026
Same author

Spatial architecture of autism pathogenesis reveals mosaic structural disarray during early development.

Nature communications·2026

Related Experiment Video

Updated: May 27, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.4K

Rare SV2C coding variants in Parkinson's disease risk.

Chu Hua Chang1,2, Elaine Guo Yan Chew1, Michelle Mulan Lian1

  • 1Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.

Journal of Parkinson'S Disease
|February 20, 2025
PubMed
Summary

Rare coding variants in synaptic vesicle glycoprotein 2C (SV2C) do not significantly increase Parkinson's disease (PD) risk in East Asian populations, apart from the known common variant. This study investigated SV2C's role in PD susceptibility.

Keywords:
ChineseEast AsianParkinson's diseaserare variantssequencingsynaptic vesicle glycoprotein

More Related Videos

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
08:55

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag

Published on: December 14, 2017

14.9K
Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration
07:46

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration

Published on: June 18, 2018

11.8K

Related Experiment Videos

Last Updated: May 27, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.4K
Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
08:55

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag

Published on: December 14, 2017

14.9K
Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration
07:46

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration

Published on: June 18, 2018

11.8K

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Genome-wide association studies identified SV2C as a Parkinson's disease (PD) risk locus.
  • A common missense variant (p.Asp543Asn) in SV2C is significantly associated with PD.
  • The role of other rare SV2C variants in PD susceptibility remains unclear.

Purpose of the Study:

  • To investigate the association of rare coding variants in SV2C with Parkinson's disease risk.
  • To determine if rare SV2C variants contribute to PD susceptibility in East Asian populations.

Main Methods:

  • Analysis of whole-exome sequencing data from 9810 East Asian individuals (4298 PD patients, 5512 controls).
  • Identification and association testing of 55 rare nonsynonymous variants in SV2C.
  • Evaluation of rare nonsynonymous and loss-of-function variants for PD association.

Main Results:

  • 55 rare nonsynonymous variants in SV2C were identified.
  • No significant association was found between rare nonsynonymous or loss-of-function SV2C variants and PD.
  • The common p.Asp543Asn variant remains the primary SV2C-associated PD risk factor identified.

Conclusions:

  • Rare coding variants in SV2C do not appear to play a major role in Parkinson's disease susceptibility in East Asia.
  • The p.Asp543Asn variant is the main SV2C-related risk factor for PD in this population.
  • Further research may focus on other genetic or environmental factors influencing PD risk.