Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency

Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency

Mitochondrial malate dehydrogenase 2 (MDH2) is crucial to cellular energy generation through direct participation in the tricarboxylic acid (TCA) cycle and the malate aspartate shuttle (MAS). Inherited MDH2 deficiency is an ultra-rare metabolic disease caused by bi-allelic pathogenic variants in the...

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Bibliographic Details
Main Authors: Déborah Mathis, Jasmine Koch, Sophie Koller, Kay Sauter, Christa Flück, Anne-Christine Uldry, Patrick Forny, D. Sean Froese, Alexander Laemmle
Format: Article
Language:English
Published: Elsevier 2024-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Malate aspartate shuttle
Malate dehydrogenase 2 deficiency
Human induced pluripotent stem cell technology
hiPSC-derived hepatocytes
Proteomics
Metabolic profiling
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924000193

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http://www.sciencedirect.com/science/article/pii/S2214426924000193

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