Related Experiment Video

Updated: Nov 9, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.1K

Channelopathies in fragile X syndrome

Pan-Yue Deng1, Vitaly A Klyachko2

  • 1Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO, USA.

Nature Reviews. Neuroscience
|April 8, 2021
PubMed

Insights

Fragile X syndrome (FXS) involves intellectual disability and autism due to loss of fragile X mental retardation protein (FMRP). Targeting channelopathies, or ion channel dysfunctions, shows promise for treating FXS in animal models.

Area of Science:

  • Neuroscience
  • Genetics
  • Pharmacology

Background:

  • Fragile X syndrome (FXS) is a leading inherited cause of intellectual disability and autism.
  • FXS results from the loss of fragile X mental retardation protein (FMRP), impacting numerous cellular processes.
  • FMRP loss leads to ion channel dysfunctions (channelopathies) contributing to FXS.

Purpose of the Study:

  • To review the current understanding of channelopathies in FXS pathogenesis.
  • To explore the role of FMRP in regulating ion channels.
  • To highlight potential therapeutic strategies targeting ion channels for FXS.

Main Methods:

  • Review of existing scientific literature on FXS, FMRP, and ion channels.
  • Analysis of studies investigating ion channel function in FXS models.
  • Synthesis of evidence on therapeutic interventions targeting ion channels.

Main Results:

  • Loss of FMRP causes widespread ion channel dysfunctions.
  • These channelopathies significantly contribute to the pathophysiology of FXS.
  • Interventions targeting dysregulated ion channels show efficacy in FXS animal models.

Conclusions:

  • Ion channel dysfunction is a key feature of FXS.
  • FMRP directly and rapidly interacts with ion channels.
  • Targeting channelopathies represents a promising therapeutic avenue for FXS.

More Related Videos

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation11:10

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

2.5K
Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein10:59

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

776

Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
105.1K
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
56.6K
Pedigree Analysis01:35

Pedigree Analysis

Overview
87.0K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
528
X-Inactivation01:58

X-Inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
40.3K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
121