Ilya Mazunin

Targeting of human mitochondrial DNA with programmable pAgo nuclease

This study demonstrates that a bacterial Argonaute protein can be targeted to mitochondria to reduce mtDNA copy number in human cells.

Targeted deletions in human mitochondrial DNA engineered by Type V CRISPR-Cas12a system

This paper demonstrates the use of a Type V CRISPR-Cas12a system to induce targeted deletions in human mitochondrial DNA, offering a potential therapeutic approach for mitochondrial disorders.

Mitochondrial Deletions and Healthspan: Lessons from the Common Repeat

The paper investigates the role of mitochondrial DNA repeats in aging and healthspan, finding that disrupting the common repeat reduces somatic deletions and improves healthspan.

Mitochondrial mutation spectrum in Chordates: damage versus replication signatures, causes, and dynamics

The paper analyzes the mitochondrial mutation spectrum in chordates, identifying three main mutation signatures and their underlying causes, with implications for age-related disease prevention.

Risk of mitochondrial deletions is affected by the global secondary structure of the human mitochondrial genome

The paper identifies a contact zone in the human mitochondrial genome where deletions are more likely, linking it to aging and lifespan.

Aneuploidy in human embryos is associated with a maternal age- independent increase in mitochondrial DNA content and an enrichment of ultra-rare mitochondrial DNA variants

The paper finds that aneuploidy in human embryos is linked to higher mitochondrial DNA content and more ultra-rare mtDNA variants, independent of maternal age.

A mitochondria-specific mutational signature of aging: increased rate of A>G substitutions on a heavy chain.

The paper identifies an AH>GH substitution signature in mtDNA linked to aging and TSSS, showing higher frequency in species with longer generation lengths.

Mammalian mitochondrial mutational spectrum as a hallmark of cellular and organismal aging.

The paper investigates mtDNA mutational spectra across species and tissues, finding a correlation between AH>GH substitutions and longevity, suggesting it as a potential oxidative damage signature in mtDNA.

Efficient target cleavage by Type V Cas12a effector programmed with split CRISPR RNA

This study shows that AsCas12a can efficiently cleave target DNA using split crRNAs, with residual activity even when only the spacer is present.

Mitochondrial DNA variation of Leber’s Hereditary Optic Neuropathy (LHON) in Western Siberia

The paper reports mitochondrial DNA mutations in LHON families from Western Siberia, finding deviations from European populations and identifying potential pathogenic variants.