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Related Concept Videos

Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

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...
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

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...
Chemical Synapses01:26

Chemical Synapses

Chemical synapses are specialized sites between two neurons or between a neuron and a non-neuronal cell like a muscle, glandular or sensory cell.
Because chemical synapses depend on the release of neurotransmitter molecules from synaptic vesicles to pass on their signal, there is an approximately one millisecond delay between when the axon potential reaches the presynaptic terminal and when the neurotransmitter leads to opening of postsynaptic ion channels. Additionally, this signaling is...
Chemical Synapses01:26

Chemical Synapses

Chemical synapses are specialized sites between two neurons or between a neuron and a non-neuronal cell like a muscle, glandular or sensory cell.
Because chemical synapses depend on the release of neurotransmitter molecules from synaptic vesicles to pass on their signal, there is an approximately one millisecond delay between when the axon potential reaches the presynaptic terminal and when the neurotransmitter leads to opening of postsynaptic ion channels. Additionally, this signaling is...

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Related Experiment Video

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Antigenic Liposomes for Generation of Disease-specific Antibodies
10:31

Antigenic Liposomes for Generation of Disease-specific Antibodies

Published on: October 25, 2018

Apolipoprotein-E genotypes and myasthenia gravis.

Hamid Suhail1, Christhunesa C Soundararajan, Subbiah Vivekanandhan

  • 1Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

Neurology India
|July 21, 2010
PubMed
Summary
This summary is machine-generated.

This study found no general link between apolipoprotein E (Apo-E) alleles and myasthenia gravis (MG). However, the Apo-E4 allele was associated with acetylcholine receptor antibody-positive MG, particularly in female patients.

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The Neuromuscular Junction: Measuring Synapse Size, Fragmentation and Changes in Synaptic Protein Density Using Confocal Fluorescence Microscopy
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The Neuromuscular Junction: Measuring Synapse Size, Fragmentation and Changes in Synaptic Protein Density Using Confocal Fluorescence Microscopy
12:18

The Neuromuscular Junction: Measuring Synapse Size, Fragmentation and Changes in Synaptic Protein Density Using Confocal Fluorescence Microscopy

Published on: December 26, 2014

Area of Science:

  • Neuroimmunology
  • Genetics
  • Biochemistry

Background:

  • Autoimmune myasthenia gravis (MG) is a neuromuscular junction disorder with potential genetic underpinnings.
  • Investigating genetic factors like apolipoprotein E (Apo-E) alleles may elucidate MG pathogenesis.

Purpose of the Study:

  • To examine the association between apolipoprotein E (Apo-E) alleles and myasthenia gravis (MG).
  • To determine if Apo-E genotypes correlate with anti-acetylcholine receptor (AChR) antibody status in MG patients.

Main Methods:

  • A case-control study involving 120 MG patients and 120 healthy controls.
  • Measurement of anti-AChR antibodies via radio receptor immunoassay.
  • Analysis of Apo-E genotypes.

Main Results:

  • No significant association was found between Apo-E allelic variants and MG overall.
  • A significant association was observed between the Apo-E4 allele and acetylcholine receptor antibody-positive (AChR-positive) MG patients (P = 0.007).
  • Among seropositive patients, the Apo-E4 allele showed a significant association with female gender (P = 0.023).

Conclusions:

  • The Apo-E4 allele may influence seropositive status in myasthenia gravis.
  • Apo-E4 appears to be a potential susceptibility factor for MG, especially in females.