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Tag: mitochondrial diseases

Biochemistry of Mitochondrial Coenzyme Q Biosynthesis

This article explores the biochemistry of Coenzyme Q (CoQ) biosynthesis, a crucial redox-active lipid essential for mitochondrial function, electron transport, and oxidative phosphorylation. Despite its importance, the complete biosynthetic pathway remains undefined, with several enzymatic steps and molecular functions of key proteins still unclear. Recent advancements using traditional biochemistry and

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June 26, 2025 No Comments

Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

This systematic review examines the strengths and limitations of current biomarkers used in diagnosing and monitoring mitochondrial diseases (MDs), emphasizing the need for more specific, reliable markers. While traditional markers like lactate and organic acids remain widely used, newer options like circulating cell-free mitochondrial DNA show promise but require further

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June 26, 2025 No Comments