Varied Responses to a High m.3243A>G Mutation Load and Respiratory Chain Dysfunction in Patient-Derived Cardiomyocytes.

HSPB7 (Heat Shock Protein Family B member 7), a heat shock protein highly expressed in cardiac tissue, showed a trend for increased gene expression in mutant cells of both patients ( Figure 5 d), as did the HSF1 gene (Heat Shock Factor 1), a regulator of the unfolded protein response, and this was significant in the MIDD patient ( Figure 5 d).

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