Article
Cross-species urinary metabolomics identifies 2-hydroxyisovalerate as a candidate biomarker for mtDNA-based disorders.
Metabolomics : Official journal of the Metabolomic Society - 20 Aug 2026
Venter Marianne, Terburgh Karin, Lindeque Jeremie Z, Ogasawara Emi, Janssen Mirian C H, Smeitink Jan A M, Nakada Kazuto, Louw Roan
Abstract excerpt
Pathogenic mitochondrial DNA (mtDNA) mutations contribute to a broad spectrum of both common and rare metabolic diseases. However, clinical presentation is highly variable and only partially explained by the proportion of mutant mtDNA or heteroplasmy. With the relationship between mutation burden and clinical manifestation poorly defined, controlled models are required to uncover underlying mechanisms. Here, we...
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