Metabolic Alterations in FMR1 Premutation Carriers

Yiqu Cao; Yun Peng; Ha Eun Kong; Emily G Allen; Peng Jin

doi:10.3389/fmolb.2020.571092

Metabolic Alterations in FMR1 Premutation Carriers

Front Mol Biosci. 2020 Sep 18:7:571092. doi: 10.3389/fmolb.2020.571092. eCollection 2020.

Authors

Yiqu Cao^{1

2}, Yun Peng^{1

2}, Ha Eun Kong¹, Emily G Allen¹, Peng Jin¹

Affiliations

¹ Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, United States.
² Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

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.

Keywords: FMR1; FXTAS; biomarker; metabolomics; therapeutic development.

Publication types

Review

Abstract

Publication types

Grants and funding