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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.
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”.
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”.
Pedigree Analysis01:35

Pedigree Analysis

Overview
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.
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.

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Related Experiment Video

Updated: May 28, 2026

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

Fragile x syndrome.

Yingratana McLennan1, Jonathan Polussa, Flora Tassone

  • 1Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis Health System, Sacramento, California, USA.

Current Genomics
|November 2, 2011
PubMed
Summary
This summary is machine-generated.

Obesity is more common in males with Fragile X syndrome (FXS), a genetic disorder causing intellectual disability and autism. Research explores molecular links between FXS, obesity, and potential treatments targeting weight gain.

Keywords:
Fragile XPrader-Willi phenotypemGluR antagonists.obesitytrinucleotide repeat

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Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
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Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
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Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
10:59

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

Published on: June 6, 2025

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Metabolic Syndromes

Background:

  • Fragile X syndrome (FXS) is the leading genetic cause of intellectual disability and a common cause of autism in males.
  • FXS results from a CGG repeat expansion in the FMR1 gene, leading to reduced FMRP protein.
  • Obesity rates are significantly higher in young males with FXS compared to controls.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying obesity in Fragile X syndrome.
  • To explore the association between FXS and Prader-Willi phenotype (PWP)-like symptoms.
  • To review current and potential future treatments for FXS, focusing on weight management.

Main Methods:

  • Analysis of national survey data on obesity rates in FXS males.
  • Review of molecular mechanisms of FMR1 gene regulation and FMRP deficiency.
  • Examination of mouse FMR1 knockout models and their response to mGluR antagonists.
  • Review of pharmacological treatments for FXS and their metabolic side effects.

Main Results:

  • Young males with FXS exhibit higher obesity rates (31%) than age-matched controls (18%).
  • Severe obesity in FXS males can resemble Prader-Willi phenotype, including hyperphagia, but without specific genetic markers for PWP.
  • Mouse models show potential for mGluR antagonists to reverse weight gain.

Conclusions:

  • FXS is associated with increased obesity risk in males, potentially linked to molecular pathways also implicated in PWP.
  • Understanding these pathways may lead to targeted therapies for FXS that address both cognitive/behavioral symptoms and metabolic issues like obesity.
  • Future research should focus on treatments that improve FXS outcomes without causing weight gain.