Association of RANBP2 with cytokine storm and cellular energy

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Cytokine storm may play an important role in the pathomechanismof acute necrotizing encephalopathy (ANE) recognized in Japan. It is still unknownwhether ANE is caused by a single gene mutation such as RANBP2. We conducted geneticanalysis of COX genes, which are the potential binding proteins of RANBP2 and co-operateon mitochondrial electron transfer system. We could not detect the mutation in COX11 and COX17 in 24 ANE patients. We found a heterozygous amino acid substitution in exon 3 of COX10 in a case with ANE. Three patients had minor allele A of non-synonymousrs2231682 in COX15 (MAF <0.01). We suggested that these amino acid substitutions ofCOXs may relevant to mitochondrial dysfunction and predispose to the onset of ANE.