Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia.

ABSTRACT:

Background

Glycogen storage disease type Ia (GSDIa) is an inborn metabolic disorder caused by the deficiency of glucose-6-phospatase-α (G6Pase-α) leading to mitochondrial dysfunction. It remains unclear whether mitochondrial dysfunction is present in patients' peripheral blood mononuclear cells (PBMC) and whether dietary treatment can play a role. The aim of this study was to investigate mitochondrial function in PBMC of GSDIa patients.

Methods

Ten GSDIa patients and 10 age-, sex- and fasting-time matched controls were enrolled. Expression of genes involved in mitochondrial function and activity of key fatty acid oxidation (FAO) and Krebs cycle proteins were assessed in PBMC. Targeted metabolomics and assessment of metabolic control markers were also performed.

Results

SUBMITTER: Rossi A 

PROVIDER: S-EPMC10245432 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature