Modelling Protein Synthesis as A Biomarker in Fragile X Syndrome Patient-Derived Cells

The most conserved molecular phenotype of Fragile X Syndrome (FXS) is aberrant protein synthesis. This has been validated in a variety of experimental model systems from zebrafish to rats, patient-derived lymphoblasts and fibroblasts. With the advent of personalized medicine paradigms, patient-deriv...

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Bibliographic Details
Main Authors: Rakhi Pal, Aditi Bhattacharya
Format: Article
Language:English
Published: MDPI AG 2019-03-01
Series:Brain Sciences
Subjects:
Online Access:http://www.mdpi.com/2076-3425/9/3/59
Description
Summary:The most conserved molecular phenotype of Fragile X Syndrome (FXS) is aberrant protein synthesis. This has been validated in a variety of experimental model systems from zebrafish to rats, patient-derived lymphoblasts and fibroblasts. With the advent of personalized medicine paradigms, patient-derived cells and their derivatives are gaining more translational importance, not only to model disease in a dish, but also for biomarker discovery. Here we review past and current practices of measuring protein synthesis in FXS, studies in patient derived cells and the inherent challenges in measuring protein synthesis in them to offer usable avenues of modeling this important metabolic metric for further biomarker development.
ISSN:2076-3425