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. 2015 Mar 27;128(12):895–904. doi: 10.1042/CS20140705

Figure 2. mtDNA sequencing reveals novel mutations in the MTND1 gene.

Figure 2

(A) Sequencing of the mitochondrial genome identified an m.3365T>C mutation in Patient 1 predicting a p.(Leu20Pro) amino acid substitution. The mutation was present at high levels in patient muscle, but undetectable in all other tissue samples and maternal samples, consistent with a de novo mutation event. (B) Evolutionary sequence alignment of the relevant portion of the ND1 protein confirms p.Leu20 to be a highly conserved residue. (C) Sequencing of the mitochondrial genome identified an m.4175G>A mutation in Patient 2 predicting a p.(Trp290*) truncating event. This heteroplasmic mutation was present at high levels in patient muscle and at low levels in urinary sediment, but was also undetectable in available maternal DNA samples. (D) Predicted structure of human ND1 showing the eight transmembrane domains (http://sosui.proteome.bio.tuat.ac.jp) and the location of the p.(Leu20Pro) and p.(Trp209*) mutations, one within a transmembrane region and one within a conserved hydrophilic extra-membrane loop.