Extended Data Figure 9: Mitochondrial transcript codon occupancy from ribosome profiling of individual patient lines.
From: Mitochondrial translation requires folate-dependent tRNA methylation
a, Codon-specific mitochondrial ribosome occupancy ratio (patient/control fibroblasts) in individual patient derived cell lines (n = 1 for each individual patient, normalized to mean of n = 2 control fibroblast lines). Patients either had nuclear MTO1 missense mutations (patient A c.[1261-5T>G];[1430G>A], patient B c.[1222T>A];[1222T>A]) or were diagnosed with MELAS and carry the recurrent point mutation m.3243A>G in the mitochondrial gene for tRNA Leu1 (MT-TL1). b, Next-generation sequencing of mtDNA mutation load m.3243A>G (MT-TL1) in control fibroblasts and MELAS patient cell lines. Each bar shows one biological replicate for control and patient cell lines. Integrative genomics viewer sequencing raw data are shown on the right.
