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Fragile X and APP: a Decade in Review, a Vision for the Future

Cara J Westmark1

  • 1Department of Neurology, University of Wisconsin-Madison, Medical Sciences Center, Room 3619, 1300 University Avenue, Madison, WI, USA. westmark@wisc.edu.

Molecular Neurobiology
|September 19, 2018
PubMed

Insights

Fragile X syndrome (FXS) research reveals amyloid precursor protein (APP) dysregulation. APP metabolites show promise as therapeutic targets and biomarkers for FXS, potentially improving treatment options.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Fragile X syndrome (FXS) is a severe developmental disorder with no current treatments targeting its root cause.
  • Previous research linked amyloid-beta protein precursor (APP) dysregulation in Fmr1KO mice to metabotropic glutamate receptor 5 (mGluR5).

Purpose of the Study:

  • To review advances in FXS research over the past decade.
  • To discuss the potential of APP and its metabolites as therapeutic targets and biomarkers for FXS.
  • To explore the implications for Alzheimer's disease treatment.

Main Methods:

  • Review of scientific literature and experimental findings.
  • Analysis of APP dysregulation pathways in Fmr1KO mouse models.
  • Discussion of potential therapeutic strategies and biomarker validation.

Main Results:

  • Significant expansion and reproduction of original findings on APP dysregulation in FXS models.
  • Identification of APP metabolites as potential biomarkers and therapeutic targets for FXS.
  • Exploration of mGluR5 inhibitors' potential in Alzheimer's disease.

Conclusions:

  • APP metabolites represent promising avenues for FXS therapeutic development and biomarker discovery.
  • Further research is required to validate APP metabolites for clinical application in FXS.
  • The findings suggest a potential link between FXS and Alzheimer's disease pathways.
Keywords:
Amyloid-beta protein precursor (APP)Cellular prion protein (PrPC)Fragile X mental retardation protein (FMRP)Fragile X syndrome (FXS)Metabotropic glutamate receptor 5 (mGluR5)

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