In our previous study, RNA-seq data revealed strong enrichment of PI3K-AKT and MTOR pathways in patient-derived fibroblasts carrying the m.3243A>G mtDNA mutation [5], which was confirmed in muscle biopsies by immunofluorescence and re-analysis of published RNA-seq datasets from muscle biopsies of patients with MELAS [11]. The gene discussed is AKT1; the disease is MELAS.