A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options

• DOI: 10.1016/j.ymgmr.2022.100877
• Publication Date: 2022-05-05T18:12:14Z
• Authors: Ying Wang; Evren Gumus; Siegfried Hekimi
• Keywords: Coenzyme Q10; Mitochondrial disease; Mitochondrial respiratory chain; Pharyngeal muscles

Coenzyme Q10 (CoQ10) is necessary as electron transporter in mitochondrial respiration and other cellular functions. CoQ10 synthesized by all cells defects the synthesis pathway result primary deficiency that frequently leads to severe disease syndrome. exceedingly hydrophobic, insoluble, poorly bioavailable, with dietary supplementation produces no or only minimal relief for patients. We studied a patient from Turkey identified characterized new mutation biosynthetic gene COQ7 (c.161G > A; p.Arg54Gln). find unexpected neuromuscular pathology can accompany caused mutation. also show by-passing need providing unnatural precursor 2,4-dihydroxybenzoic acid, has been proposed, unlikely be an effective safe therapeutic option. In contrast, we first time human respiratory defect resulting rescued formulated caspofungin (CF/CoQ). Caspofungin clinically approved intravenous fungicide whose surfactant properties lead micellization, complete water solubilization, efficient uptake organs animal studies. These findings reinforce possibility of using CF/CoQ clinical treatment CoQ10-deficient