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Coenzyme Q10 supplementation restores mitochondrial respiration in patients with primary CoQ10 deficiency caused by novel COQ2 and COQ4 variants

Achanya S. Jayan Priya Nataraj Arun Kumar Gangadharan Olivia Thomas Rekha Mangat Cibin T. Raghavan Srinivas Gopala Soumya Sundaram Madhusoodanan Urulangodi
Sep 2026 · Metabolic brain disease · Vol 41 · 0 citations · 25 references
Medicine

TL;DR

Functional evidence is provided that defective mitochondrial function in these conditions is, at least in part, reversible with targeted CoQ10 therapy, underscoring the importance of early genetic diagnosis and timely initiation of CoQ10 supplementation.

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