Jingti Deng

Pathogenic Mitofusin 2 variants causing myopathy drive endosomal mtDNA release and inflammation

The paper identifies how pathogenic MFN2 variants cause mtDNA release into endosomes and mitochondrial-derived vesicles, triggering inflammation and myopathy, and suggests a therapeutic strategy using integrated stress response activation.

Measuring mtDNA turnover, synthesis, and supercoiling via selective bromodeoxyuridine incorporation

The paper describes a protocol to measure mtDNA synthesis, turnover, and supercoiling using selective bromodeoxyuridine incorporation and Southwestern blotting.

Functional characterization of two variants in the mitochondrial topoisomerase gene TOP1MT that impact regulation of the mitochondrial genome

The paper characterizes two TOP1MT variants in a patient with hypertrophic cardiomyopathy, showing both impair mitochondrial functions but affect different aspects of mtDNA regulation.