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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...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...

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Related Experiment Video

Updated: Jun 26, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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MYO9B polymorphisms in multiple sclerosis.

Anu Kemppinen1, Minna Suvela, Pentti J Tienari

  • 1Department of Molecular Medicine, National Public Health Institute and Institute for Molecular Medicine Finland, FIMM, Helsinki, Finland.

European Journal of Human Genetics : EJHG
|January 15, 2009
PubMed
Summary
This summary is machine-generated.

Genetic variants in the myosin IXB (MYO9B) gene were investigated for links to multiple sclerosis (MS). This study found no significant association between MYO9B gene variations and MS risk in Northern European populations.

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Area of Science:

  • Genetics
  • Immunology
  • Neurology

Background:

  • Single-nucleotide polymorphisms (SNPs) in the myosin IXB (MYO9B) gene have been linked to inflammatory and autoimmune diseases.
  • The potential role of MYO9B variants in the pathogenesis of multiple sclerosis (MS) remains unclear.

Purpose of the Study:

  • To investigate the association between MYO9B gene variants and multiple sclerosis (MS).
  • To evaluate the role of MYO9B in MS susceptibility across Northern European populations.

Main Methods:

  • Genotyping of 18 single-nucleotide polymorphisms (SNPs) in the MYO9B gene in 730 Finnish MS families.
  • Association analysis of 10 MYO9B variants in 899 Finnish MS cases and 1325 controls.
  • Replication analysis in a combined cohort of 1521 MS cases and 1476 controls from Denmark, Norway, and Sweden.

Main Results:

  • No linkage or family-based association was detected between MYO9B variants and MS in the Finnish cohort.
  • No significant association was found between the tested MYO9B variants and MS in the combined Northern European case-control cohorts.
  • The study lacked statistical power to detect variants with very small effect sizes.

Conclusions:

  • The investigated single-nucleotide polymorphisms (SNPs) in the MYO9B gene are unlikely to play a major role in the etiology of multiple sclerosis (MS).
  • These findings do not support a significant contribution of the tested MYO9B variants to MS susceptibility in Northern European populations.