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

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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
Adult GSDIa patients showed increased CPT1A, SDHB, TFAM, mTOR expression (p < 0.05) and increased VLCAD, CPT2 and citrate synthase activity in PBMC (p < 0.05). VLCAD activity directly correlated with WC (p < 0.01), BMI (p < 0.05), serum malonycarnitine levels (p < 0.05). CPT2 activity directly correlated with BMI (p < 0.05).

Conclusion
Mitochondrial reprogramming is detectable in PBMC of GSDIa patients. This feature may develop as an adaptation to the liver enzyme defect and may be triggered by dietary (over)treatment in the frame of G6Pase-α deficiency. PBMC can represent an adequate mean to assess (diet-induced) metabolic disturbances in GSDIa

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource
Language
Englisch
Notes
Genes & nutrition. - 18, 1 (2023) , 10, ISSN: 1865-3499

Event
Veröffentlichung
(where)
Freiburg
(who)
Universität
(when)
2023
Creator
Rossi, Alessandro
Assunto, Antonia
Rosano, Carmen
Tucci, Sara
Ruoppolo, Margherita
Caterino, Marianna
Pirozzi, Francesca
Strisciuglio, Pietro
Parenti, Giancarlo
Melis, Daniela

DOI
10.1186/s12263-023-00729-y
URN
urn:nbn:de:bsz:25-freidok-2375106
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
25.03.2025, 1:48 PM CET

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Associated

  • Rossi, Alessandro
  • Assunto, Antonia
  • Rosano, Carmen
  • Tucci, Sara
  • Ruoppolo, Margherita
  • Caterino, Marianna
  • Pirozzi, Francesca
  • Strisciuglio, Pietro
  • Parenti, Giancarlo
  • Melis, Daniela
  • Universität

Time of origin

  • 2023

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