Genetic background strongly influences the phenotype of human mitochondrial diseases. Mitochondrial biogenesis and function require up to 1500 nuclear genes, providing myriad opportunities for effects on disease expression. Phenotypic variability, combined with relative rarity, constitutes a major obstacle to establish cohorts for clinical trials. Animal models are, therefore, potentially valuable. However, several of these show no or very mild disease phenotypes compared with patients and can not be used for therapeutic studies. One reason might be the insufficient attention paid to the need for genetic diversity in order to capture the effects of genetic background on disease expression. Here, we use data from various models to emphasize the need to preserve genetic diversity when studying mitochondrial disease phenotypes or drug effects.
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