Quantitative profiling and diagnostic potential of one-carbon and central metabolism pools in MODY2 and T1DM.

ABSTRACT:

Background

Maturity-onset diabetes of the young type 2 (MODY2) is a rare genetic disorder characterized as mild fasting hyperglycemia with low risk of vascular complications caused by glucokinase gene mutation. This study aims to investigate metabolites alteration associated with MODY2, exploring possible mechanism underlying characteristic clinical manifestations and low cardiovascular risks of MODY2 and providing serum metabolite biomarkers to facilitating MODY2 diagnosis.

Methods

Fasting serum samples from MODY2, type 1 diabetes (T1DM) and healthy individuals were collected. By using targeted metabolomics via liquid chromatography-tandem mass spectrometry platform, we quantified the metabolites involved in tricarboxylic acid (TCA) cycle and one-carbon metabolism.

Resul

SUBMITTER: Liu J 

PROVIDER: S-EPMC10594937 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature