Metabolic Alterations in FMR1 Premutation Carriers

• Type of Material: Article
• Authors: Yiqu Cao, Emory University; Yun Peng, Emory University; Ha Eun Kong, Emory University; Emily Allen, Emory University; Peng Jin, Emory University
• Language: English
• Date: 2020-09-18
• Publisher: FRONTIERS MEDIA SA
• Publication Version: Final Published Version
• Copyright Statement: © 2020 Cao, Peng, Kong, Allen and Jin.
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.3389/fmolb.2020.571092
• Title of Journal or Parent Work: FRONTIERS IN MOLECULAR BIOSCIENCES
• Volume: 7
• Start Page: 571092
• End Page: 571092
• Grant/Funding Information: This work was supported by the National Institutes of Health (NS111602 and NS051630 to PJ, NS091859 to EA and PJ, and AG065815 to EA).
• Keywords: therapeutic development; Science & Technology; TREMOR/ATAXIA SYNDROME; GAMMA-HYDROXYBUTYRIC ACID; FRAGILE-X PREMUTATION; FXTAS; NON-AUG TRANSLATION; TREMOR; DROSOPHILA MODEL; FMR1; Biochemistry & Molecular Biology; CGG REPEATS; MITOCHONDRIAL DYSFUNCTION; biomarker; RCGG REPEATS; MEDIATED NEURODEGENERATION; Life Sciences & Biomedicine; metabolomics
• Research Categories: Biology, Molecular; Chemistry, Biochemistry

Abstract

FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood. Currently the development of biomarkers and effective treatments in FMR1 premutations is still in its infancy. Recent metabolic studies have shown novel findings in asymptomatic FMR1 premutation carriers and FXTAS, which provide promising insight through identification of potential biomarkers and therapeutic pathways. Here we review the latest advancements of the metabolic alterations found in asymptomatic FMR1 premutation carriers and FXTAS, along with our perspective for future studies in this emerging field.