期刊
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
卷 4, 期 12, 页码 902-908出版社
WILEY
DOI: 10.1002/acn3.486
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资金
- German Research Foundation/Deutsche Forschungsgemeinschaft [DI 1731/2-1]
The clinical phenotypes of human CoQ(10)-deficiency caused by COQ2 mutations range from fatal neonatal disease to adult-onset multisystem atrophy. So far, treatment options for these diseases are unsatisfactory. Here, we demonstrate that supplementation of 4-hydroxybenzoic acid (4-HBA) fully restores endogenous CoQ(10)-biosynthesis in COQ2-deficient cell lines. This was accompanied by increased protein expression of CoQ(10)-biosynthesis-enzymes as well as a rescue of cell viability during stress conditions. In silico analysis suggested a ligand transportation path for 4-HBA through the COQ2 protein towards the mitochondrial matrix side. This process is apparently hindered by disease-causing mutations, which can be overcome by increasing 4-HBA concentrations.
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