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

18.0K
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,...
18.0K
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

40.6K
Overview
40.6K
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

5.0K
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
5.0K
Multiple Allele Traits01:49

Multiple Allele Traits

38.0K
The Concept of Multiple Allelism
38.0K
Bioavailability Study Design: Single Versus Multiple Dose Studies01:11

Bioavailability Study Design: Single Versus Multiple Dose Studies

220
Bioavailability studies are essential for understanding how a drug is absorbed, distributed, metabolized, and excreted in the body. These studies assess the extent and rate at which the active pharmaceutical agent becomes available at the site of action. The design of bioavailability studies can involve single-dose or multiple-dose regimens, each with distinct advantages and limitations.Single-dose studies are the preferred approach due to their simplicity and reduced drug exposure for...
220
Nucleic Acids and Nucleotides01:20

Nucleic Acids and Nucleotides

14.0K
Nucleic acids are the most important macromolecules for the continuity of life. They carry the cell's genetic blueprint and have instructions for its functioning. The two main types of nucleic acids are deoxyribonucleic acid (DNA) and ribonucleic acid (RNA).
Deoxyribonucleic Acid (DNA)
DNA is the genetic material in all living organisms, ranging from single-celled bacteria to multicellular mammals. It is in the nucleus of eukaryotes and the organelles such as chloroplasts and mitochondria....
14.0K

You might also read

Related Articles

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

Sort by
Same author

Donor-specific pathological features associate with genetic background, lesion type distribution, and clinical heterogeneity in multiple sclerosis.

Acta neuropathologica·2026
Same author

Epithelial PCSK6 Promotes Proliferation and Decreases Collagen Deposition by Fibroblasts Potentially via MMP Activation.

International journal of molecular sciences·2026
Same author

Microglial states associate with lesion dynamics in multiple sclerosis.

Cell reports·2026
Same author

Human microglial transitions at the Aβ-tau inflection point associate with divergent pathways to dementia and resilience.

Nature medicine·2026
Same author

Foamy microglia link oxylipins to disease progression in multiple sclerosis.

Nature neuroscience·2026
Same author

Adhesion G protein-coupled receptors.

Pharmacological reviews·2026

Related Experiment Video

Updated: Jan 23, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

12.0K

Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms.

Nina L Fransen1, Jakob B A Crusius2, Joost Smolders1,3

  • 1Department of Neuroimmunology, The Netherlands Institute for Neuroscience, Amsterdam, The Netherlands.

Brain Pathology (Zurich, Switzerland)
|June 23, 2019
PubMed
Summary
This summary is machine-generated.

Genetic variations called single nucleotide polymorphisms (SNPs) are linked to multiple sclerosis (MS) severity. This study connects specific SNPs to MS lesion characteristics in brain tissue, offering insights into disease mechanisms.

Keywords:
CLEC16AFASNCANmultiple sclerosisneuropathology

More Related Videos

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

1.9K
The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool
11:35

The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool

Published on: June 30, 2014

58.7K

Related Experiment Videos

Last Updated: Jan 23, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

12.0K
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

1.9K
The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool
11:35

The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool

Published on: June 30, 2014

58.7K

Area of Science:

  • Neuroimmunology
  • Genetics
  • Neuropathology

Background:

  • Single nucleotide polymorphisms (SNPs) are associated with multiple sclerosis (MS) clinical outcomes, but their underlying pathogenic mechanisms remain unclear.
  • Translating genetic findings into disease-relevant biological mechanisms is challenging.
  • Previous research linked clinical disease course in MS to post-mortem lesion characteristics.

Purpose of the Study:

  • To investigate the association between specific SNPs and MS lesion characteristics in autopsy brain tissue.
  • To bridge the gap between genotype and disease mechanisms in multiple sclerosis.
  • To explore how genetic variations influence the pathological features of MS lesions.

Main Methods:

  • Genotyping of 102 SNPs in 179 MS brain donors from the Netherlands Brain Bank MS autopsy cohort.
  • Selection of SNPs based on reported associations with clinical outcome or differential gene expression in MS lesions.
  • Pathological characterization of MS lesions, including proportions of active, mixed, and remyelinated lesions, and incidence of cortical gray matter lesions.

Main Results:

  • Three SNPs associated with MS clinical severity correlated with the proportion of active or mixed active/inactive lesions.
  • Three SNPs linked to MS pathology genes showed significant associations with lesion characteristics, including active lesions, cortical gray matter lesions, and remyelinated lesions.
  • Increased FAS gene expression was observed in specific cell types in T-allele carriers of rs2234978/FAS, implicating FAS in MS lesion formation.

Conclusions:

  • This study successfully links specific SNPs to distinct MS lesion characteristics in autopsy tissue.
  • The findings provide a foundation for translating MS-associated genotypes into pathogenic mechanisms.
  • Combining neuropathology and genetics offers a pathway to understand the molecular basis of MS lesion development and clinical variability.