Article

Targeted Reduction of Pathogenic Heteroplasmy Through Binding of G-Quadruplex DNA

2018-06-28

Abstract excerpt

Pathogenic mitochondrial DNA (mtDNA) variants are typically heteroplasmic, with coexistence of variant and wild type genomes. Because heteroplasmy dictates phenotype, the reduction of heteroplasmy is potentially therapeutic. We identified pathogenic variants that increased the potential for formation of non-canonical G-quadruplexes (GQ) within mtDNA. The Leigh Syndrome (LS)-associated mt.10191T>C variant has a hig...

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Literature Corpus work: b5fdd86b-994c-5f12-a54a-6867d91df61e
DOI: 10.1101/358101

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