Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, Ying Wang, Maike Dohrn, Eva Nyvltova, Matt Denzi, Mark Garrett, Sean Smith, Alan Pestronk, ChengCheng Li, Ariel Ruiz, Elizabeth Jacobs, Shawna M E Feely, Marcondes C França, Marcus V Gomes, Diogo Santos, Surinder Kumar, David B Lombard, Mario Saporta, Siegfried Hekimi, Antonio Barrientos, Conrad Weihl, Michael Shy, Wilson Marques, Stephan Zuchner
COQ7 encodes a hydroxylase responsible for the penultimate step of coenzyme Q10 (CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple cellular functions, including mitochondrial oxidative phosphorylation, lipid metabolism, and reactive oxygen species homeostasis. Mutations in COQ7 have been previously associated with primary coenzyme Q10 deficiency, a clinically heterogeneous multisystemic mitochondrial disorder. We identified COQ7 biallelic variants in nine families diagnosed with distal hereditary motor neuropathy (dHMN) with upper neuron involvement, expending the clinical phenotype associated with defects in this gene...
May 12, 2023: Brain