Figure 4

Rates of homoplasmic and heteroplasmic mutations per AHM patient affecting specific mtDNA regions. (Left) Homoplasmic and (Right) heteroplasmic mutation rates in specific mtDNA regions, for 13 AHM patients carrying the ITPA 94A mutant allele (MDS n=8, CLL n=4 and AML n=1) compared with 4 AHM patients homozygous for the ITPA 94C wildtype allele (MDS n=2, CLL n=1 and AML n=1). D-loop: control region; rRNA: mitochondrial ribosomal RNAs; tRNA: mitochondrial transfer RNAs; Prot: protein gene. Mutations were identified against the MitoChip standard mtDNA reference sequence (rCRS) and those belonging to the assigned mtDNA haplogroup of each patient excluded. The results are shown as means ± SEM (p values not significant, Mann–Whitney two-tailed test).