AUTHOR=Cao Yiqu , Peng Yun , Kong Ha Eun , Allen Emily G. , Jin Peng 

TITLE=Metabolic Alterations in FMR1 Premutation Carriers

JOURNAL=Frontiers in Molecular Biosciences

VOLUME=7

YEAR=2020

URL=https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2020.571092

DOI=10.3389/fmolb.2020.571092

ISSN=2296-889X

ABSTRACT=<p><italic>FMR1</italic> 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 <italic>FMR1</italic> premutations is still in its infancy. Recent metabolic studies have shown novel findings in asymptomatic <italic>FMR1</italic> 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 <italic>FMR1</italic> premutation carriers and FXTAS, along with our perspective for future studies in this emerging field.</p>