Metabolomic and lipidomic characterization of an X-chromosome deletion disorder in neural progenitor cells by UHPLC-HRMS.

ABSTRACT:

Introduction

Intellectual disorders involving deletions of the X chromosome present a difficult task in the determination of a connection between symptoms and metabolites that could lead to treatment options. One specific disorder of X-chromosomal deletion, Fragile X syndrome, is the most frequently occurring of intellectual disabilities. Previous metabolomic studies have been limited to mouse models that may not have sufficiently revealed the full biochemical diversity of the disease in humans.

Objectives

The primary objective of this study was to elucidate the human biochemistry in X-chromosomal deletion disorders through metabolomic and lipidomic profiling, using cells from a X-deletion patient as a representative case.

Methods

Metabolomic and lipidomic analysis wa

SUBMITTER: Yazd HS 

PROVIDER: S-EPMC8601009 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature