Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient

Figure 3

Effect of MMUT mutations on MMUT protein and mRNA levels in HEK293T cells. (a) The relative mRNA expression of MMUT was normalized to HEK293T cells transfected with the wild-type plasmid. The data collected from three independent experiments were subjected to statistical analysis ( ; vs. WT). (b-c) The relative protein expression was normalized to HEK293 T cells transfected with the wild-type plasmid. The data collected from three independent experiments were subjected to statistical analysis ( ; vs. WT). WT: wild type; MUT1: c.554C>T (p. S185F); MUT2: c.729–730insTT (p.D244Lfs39).

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