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ORIGINAL RESEARCH

Mitochondrial Diabetes is Associated with tRNALeu(UUR) A3243G and ND6 T14502C Mutations

, ORCID Icon, &
Pages 1687-1701 | Published online: 03 Jun 2022

Figures & data

Figure 1 Two Han Chinese pedigrees with maternally transmitted T2DM, arrows indicate the probands.

Figure 1 Two Han Chinese pedigrees with maternally transmitted T2DM, arrows indicate the probands.

Table 1 Clinical and Molecular Characterizations of Some Members in Two Chinese Pedigrees with T2DM

Table 2 mtDNA Variants in Two Pedigrees with T2DM

Figure 2 Identification of tRNALeu(UUR) A3243G and ND6 T14502C mutations by direct sequencing.

Abbreviations: WT, wild type; MT, mutant.
Figure 2 Identification of tRNALeu(UUR) A3243G and ND6 T14502C mutations by direct sequencing.

Figure 3 Analysis of ATP levels in three patients with the m.A3243G and m.T14502C mutations, three patients with the only m.A3243G mutation and three controls without these mtDNA mutations.

Figure 3 Analysis of ATP levels in three patients with the m.A3243G and m.T14502C mutations, three patients with the only m.A3243G mutation and three controls without these mtDNA mutations.

Figure 4 Analysis of ROS production in three patients with the m.A3243G and m.T14502C mutations, three patients with the only m.A3243G mutation and three controls without these mtDNA mutations.

Figure 4 Analysis of ROS production in three patients with the m.A3243G and m.T14502C mutations, three patients with the only m.A3243G mutation and three controls without these mtDNA mutations.

Table 3 Summary of Clinical and Molecular Data for 19 DM Pedigrees Carrying tRNALeu(UUR) A3243G Mutation

Table 4 Overview of Clinical Presentation of Mitochondrial ND6 T14502C Mutation