Mice embryos analyzed in our study, from left to right, wild type, three heterozygous KO for ADCK2 gene
The coenzyme Q deficiency is a heterogenous disease that affects mitochondria. Specifically, a mutation in the gene ADCK2 induces myopathy and an alteration in lipid metabolism in the adult mice related with a Coenzyme Q deficiency and a failure in the fatty acid beta-oxidation. Our studies demonstrate that ADCK2+/- mutant mouse alters the transcriptome very early in the development and such alteration predicts the mutant phenotype before the symptom appears. We expect to show the correlation between the transcriptome alteration at early development with the mutant phenotype in the adult mice when the symptoms appear.