Related Experiment Video

Updated: Jul 3, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis

Jc Pronk1, Gc Scheper, Rj van Andel

  • 1Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

Multiple Sclerosis (Houndmills, Basingstoke, England)
|July 18, 2008
PubMed

Insights

Genetic variations in EIF2B1-5 genes, linked to vanishing white matter (VWM), do not appear to increase multiple sclerosis (MS) risk or temperature sensitivity in MS patients. This study found no significant association between these genetic variants and MS development.

Area of Science:

  • Neuroimmunology
  • Genetics
  • White Matter Disorders

Background:

  • Febrile infections can trigger relapses in white matter disorders like vanishing white matter (VWM) and multiple sclerosis (MS).
  • The EIF2B1-5 genes are crucial for cellular response to stress and are implicated in VWM.

Purpose of the Study:

  • To investigate if polymorphisms in EIF2B1-5 genes are associated with an increased risk of developing MS.
  • To determine if EIF2B1-5 variants contribute to temperature sensitivity in individuals with MS.

Main Methods:

  • Compared frequencies of 15 EIF2B1-5 gene variants in MS patients versus healthy controls.
  • Analyzed EIF2B1-5 gene sequences in 20 MS patients.
  • Measured eIF2B complex activity in lymphoblasts derived from MS patients.

Main Results:

  • No significant differences in EIF2B1-5 variant frequencies were observed between MS patients and controls.
  • Hardy-Weinberg equilibrium analysis showed no significant deviations for the studied variants.
  • Genetic sequencing and eIF2B activity measurements did not support the initial hypothesis.

Conclusions:

  • Polymorphisms in EIF2B1-5 genes are unlikely to be risk factors for MS development.
  • These genetic variants do not appear to influence temperature sensitivity in patients with MS.
  • The study refutes the hypothesis linking EIF2B1-5 gene variants to MS susceptibility or its temperature-related symptoms.

Related Concept Videos

Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...