Related Experiment Video

Updated: Aug 5, 2025

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
11:10

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

Published on: July 6, 2022

2.3K

From circuits to behavior: Amygdala dysfunction in fragile X syndrome

Matthew N Svalina1,2,3,4, Regina Sullivan5,6, Diego Restrepo2,4

  • 1Medical Scientist Training Program, University of Colorado Anschutz Medical Campus, Aurora, CO, United States.

Frontiers in Integrative Neuroscience
|March 27, 2023
PubMed

Insights

Fragile X syndrome (FXS) results from FMR1 gene mutations, causing FMRP loss and impacting brain development. This review explores how FXS affects amygdala development and function, contributing to related disorders.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder caused by FMR1 gene mutations.
  • These mutations lead to the loss of fragile X messenger ribonucleoprotein 1 protein (FMRP), crucial for early brain development.
  • FXS is associated with various neuropsychiatric disorders, particularly those involving the amygdala.

Purpose of the Study:

  • To review the development of the amygdala in the context of FXS.
  • To explore the role of neuromodulation and critical period plasticity in FXS-related amygdala dysfunction.
  • To summarize recent findings on synaptic and circuit-level alterations in the basolateral amygdala contributing to FXS behaviors.

Main Methods:

  • This study is a review of existing literature.
  • It synthesizes research on amygdala development, neuromodulation, and synaptic plasticity in FXS.
  • The focus is on cellular and circuit-level mechanisms underlying FXS-associated behaviors.

Main Results:

  • Loss of FMRP impacts normal cellular and synaptic development.
  • Alterations in basolateral amygdala development and function are implicated in FXS.
  • Neuromodulation and critical period plasticity are key factors in FXS pathophysiology.

Conclusions:

  • FXS pathophysiology involves disruptions in amygdala development and function.
  • Understanding synaptic and circuit-level changes in the basolateral amygdala is crucial for explaining FXS-related behaviors.
  • Further research into these mechanisms may reveal therapeutic targets for FXS.
Keywords:
E/I balancebasolateral amygdalacritical perioddevelopmentfragile X syndromesynaptic plasticity

More Related Videos

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene08:22

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

8.0K
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

545

Related Concept Videos

Role of Amygdala in Memory01:16

Role of Amygdala in Memory

The amygdala is a small, almond-shaped structure responsible for processing and storing memories, particularly those linked to emotions like fear and stress. It plays an essential role in the brain's response to emotionally significant events and often enhances memory formation by triggering stress hormone release. The amygdala is vital for encoding and retrieving memories associated with fear or stress, a process that is adaptive by helping organisms avoid dangerous situations.
One of the...
324
Functional Brain Systems: Limbic System01:15

Functional Brain Systems: Limbic System

The limbic system, often called the "emotional brain," is a complex set of structures located deep within the brain. The intricate network of the limbic system supports a wide range of psychological functions, from emotional regulation to memory formation and sensory processing. This functional brain region encompasses specific parts of the diencephalon and the cerebrum, integrating the higher mental functions of the cerebral cortex with the primitive emotional responses of the deep brain...
3.2K
Generalized Anxiety Disorder01:30

Generalized Anxiety Disorder

Generalized Anxiety Disorder (GAD) is a chronic condition characterized by excessive and uncontrollable worry that persists for at least six months, significantly interfering with daily functioning. Unlike situational anxiety, which arises in response to specific stressors, GAD often occurs without a clear cause. Individuals may experience disproportionate worry about work, health, or relationships. For instance, a person might continuously fear poor health despite normal medical evaluations or...
174
Social Anxiety Disorder01:28

Social Anxiety Disorder

Social anxiety disorder, also known as social phobia, is characterized by an intense fear of social situations where one might face humiliation, rejection, embarrassment, or negative evaluation. This disorder leads individuals to avoid activities like casual conversations, public speaking, or seemingly simple tasks such as eating, signing documents, or swimming, in public settings. Its impact extends beyond discomfort, often significantly interfering with daily functioning and quality of life.
67
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining,...
9.7K