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How mtDNA Mutations Cause Mitochondrial Disease

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Technical Report,01 Aug 2018,31 Jul 2019

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Vanderbilt University Nashville United States

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We sought to develop C. elegans as a model system to study how mutant mtDNA levels can vary across different cell types. We have overcome technical hurdles and have optimized a protocol pipeline to isolate cells, FACS sort them, and perform ddPCR. We have optimized this pipeline for muscle cells, neurons, and intestinal cells, across three different heteroplasmic mutant mtDNA. Our pipeline demonstrates proof of concept. It can be applied to measure mutant mtDNA levels from any cell type that can be labeled with GFP. While our work in done using C. elegans as a model system, theoretically, our pipeline can be used in other systems including mammalian systems. Additionally, we observe lower mutant mtDNA levels in neurons and muscles compared to the rest of the somatic tissues, suggesting active regulation of mutant mtDNA levels in somatic cells. Finally, we also observe a small but significant decrease in mutant mtDNA levels in neurons as a function of age. Overall, our data suggest that mutant mtDNA levels change in a dynamic manner in C. elegans.

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  • Medicine and Medical Research

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