Fig. 3

Homoplasmic mutations in ND5 are enriched in whole blood samples of maternally associated ALS patients. a–c For all sample types analyzed, the homoplasmic mutations per subject were counted. d In whole blood homoplasmic mutations in ND5 per subject showed a strong association with a possible maternal inheritance of the disease when data were analyzed per gene and compared to non-maternal samples. (Graphs show data as mean ± SD, Mann–Whitney test p = 0.0706) e–g The number of homoplasmic mutations in ND5 per subject is shown for all ALS cases e, for maternally associated ALS cases f as well as for ALS cases that do not allow maternal inheritance g, comparing ALS patients with a bulbar onset versus patients with a spinal onset (mean ± SD, Mann–Whitney test, *p ≤ 0.05, **p ≤ 0.01). h Graphical presentation of homoplasmic mutations on the ND5 gene in possible maternal and non-maternal patients with spinal (blue) or bulbar (orange) onset. (Created with BioRender.com) i–k Correlation of the amount of ND5 mutations to ALSFRS decline per month, age at onset of the disease and disease duration of the respective patients (Pearson’s or Spearman’s correlation depending on normal distribution of the data)