Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers.

The two non-manifesting individuals carrying a heterozygous PRKN variant, and the homozygous PRKN -PD patient showed a trend towards a decreased basal OCR level compared to the control group (controls 0.73 ± 0.1 vs. 0.55 ± 0.1 vs. 0.45 ± 0.17; p = 0.48, p = 0.29) (Fig. 3c ).

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In peripheral blood of unaffected carriers of 17 heterozygous PRKN variants and controls, identified previously in the population-based CHRIS study 11 , a group comparison suggested a possible trend towards increased mtDNA copy number in heterozygous PRKN variant carriers.

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