Luna-Sanchez et al (EMBO Molecular Medicine, November 2016, pii: e201606345. doi: 10.15252/emmm.201606345) recently published an article in which they described downstream effects of CoEnzyme Q10 deficiency in both a fibroblast model and two mouse models of primary CoQ10 deficiency. This group uncovered alterations in thiol metabolism, and subsequent changes in ... Read More >>

Eldomery et al. (Genome Medicine (2016) 8:106) recently described a new mechanism of mitochondrial disease underlying a phenotype of left ventricular non-compaction, hypotonia and early death. Four affected individuals were found via whole exome sequencing to have compound heterozygous or homozygous pathogenic variants in a gene called MIPEP. This gene ... Read More >>