PGT-mt Atlas
Ilya Mazunin

Creator and curator of PGT-mt Atlas

Ilya Mazunin

Doctor of Biological Sciences (DSc), Genetics

  • Senior Research Scientist, Skolkovo Institute of Science and Technology (Skoltech), Moscow
  • Head of the Department of Biology and Genetics, Petrovsky Medical University, Moscow

Geneticist and molecular biologist specialising in the human mitochondrial genome in health and disease.

Scientific biography

a path in science

Ilya Mazunin’s research focuses on the human mitochondrial genome. Since his postgraduate studies, he has investigated pathogenic mtDNA variants associated with inherited disease. His work on the distribution of mtDNA mutations has expanded to include how they arise, approaches to preventing their transmission, and gene therapy strategies.

His work includes the development of mtDNA editing tools based on CRISPR-Cas9, CRISPR-Cas12a and prokaryotic Argonaute proteins, alongside approaches to preventing the transmission of pathogenic mtDNA variants, including PGT-mt and mitochondrial donation.

Ilya Mazunin teaches at Petrovsky Medical University, where he heads the Department of Biology and Genetics.

Role in the project

Ilya Mazunin created PGT-mt Atlas as an independent international resource for published individual mtDNA heteroplasmy values from preimplantation genetic testing, with traceable provenance for every value.

Selected publications

by research area

PGT-mt and mitochondrial disease prevention

  1. Tofilo M., Volodyaev I., Tretiakov E., Kokorina O., Avdeichik S., Smirnova A., Grechenko E., Filimonova A., Sudarikova N., Kirillova A., Mazunin I. Concordant mtDNA heteroplasmy between trophectoderm and inner cell mass supports blastocyst-stage PGT-mt for m.14487T>C. Journal of Assisted Reproduction and Genetics, 2026. doi:10.1007/s10815-026-04012-y
  2. Tofilo M., Voronova N., Nigmatullina L., Kuznetsova E., Timonina V., Efimenko B., Turgunkhujaev O., Avdeichik S., Ansar M., Popadin K., Kirillova A., Mazunin I. Live birth of a healthy child in a couple with identical mtDNA carrying a pathogenic c.471_477delTTTAAAAinsG variant in the MOCS2 gene. Genes, 2023. doi:10.3390/genes14030720
  3. Korchivaya E., Silaeva Y., Mazunin I., Volodyaev I. The mitochondrial challenge: disorders and prevention strategies. BioSystems, 2023. doi:10.1016/j.biosystems.2022.104819
  4. Kirillova A., Mazunin I. Operation “mitochondrial wipeout” — clearing recipient mitochondria DNA during nuclear transfer. Journal of Assisted Reproduction and Genetics, 2022. doi:10.1007/s10815-022-02561-6

Reproductive genetics

  1. Volodyaev I., Ivanova A., Korchivaya E., Surnov A., Pomerantseva E., Lebedev I., Semenova M., Mazunin I. The chromosomal challenge of human embryos: prevalence of aneuploidy and mosaicism. F&S Reviews, 2025. doi:10.1016/j.xfnr.2024.100082
  2. Ivanova A., Korchivaya E., Semenova M., Lebedev I., Mazunin I., Volodyaev I. The chromosomal challenge of human embryos: mechanisms and fundamentals. Human Genetics and Genomics Advances, 2025. doi:10.1016/j.xhgg.2025.100437
  3. Kirillova A., Smitz J.E.J., Sukhikh G., Mazunin I. The role of mitochondria in oocyte maturation. Cells, 2021. doi:10.3390/cells10092484

Mitochondrial genome editing

  1. Rimskaya B., Kropocheva E., Shchukina E., Ulashchik E., Gelfenbein D., Lisitskaya L., Shmanai V., Smirnikhina S., Kulbachinskiy A., Mazunin I. Targeting of human mitochondrial DNA with programmable pAgo nuclease. Cells, 2026. doi:10.3390/cells15020127
  2. Zakirova E., Sergeeva S., Morozova K., Kiseleva E., Tanaka M., Mazunin I., Orishchenko K. Specific elimination of m.8993T>G mitochondrial haplotype in NARP cybrid cells by CRISPR-Cas9 system. Scientific Reports, 2026. doi:10.1038/s41598-026-49007-y
  3. Nikitchina N., Hecke A-M., Shebanov N., Mazunin I., Tarassov I., Entelis N. Targeted deletions in human mitochondrial DNA engineered by Type V CRISPR-Cas12a system. NAR Molecular Medicine, 2025. doi:10.1093/narmme/ugaf021
  4. Rimskaya B., Shebanov N., Entelis N., Mazunin I. Enzymatic tools for mitochondrial genome manipulation. Biochimie, 2025. doi:10.1016/j.biochi.2024.10.013
  5. Shebanova R., Nikitchina N., Shebanov N., Mekler V., Kuznedelov K., Ulashchik E., Vasilev R., Sharko O., Shmanai V., Tarassov I., Severinov K., Entelis N., Mazunin I. Efficient target cleavage by Type V Cas12a effector programmed with split CRISPR RNA. Nucleic Acids Research, 2022. doi:10.1093/nar/gkab1227

Mitochondrial genome variation and mutagenesis

  1. Iliushchenko D., Efimenko B., Mikhailova A.G., Shamanskiy V., Saparbaev M.K., Matkarimov B.T., Mazunin I., Knorre D., Kunz W.S., Denisov S., Khrapko K., Fellay J., Gunbin K., Popadin K. Deciphering the Foundations of Mitochondrial Mutational Spectra: Replication-Driven and Damage-Induced Signatures Across Chordate Classes. Molecular Biology and Evolution, 2025. doi:10.1093/molbev/msae261
  2. Shamanskiy V., Mikhailova A.A., Tretiakov E.O., Ushakova K., Mikhailova A.G., Oreshkov S., Knorre D., Ri N., Overdevest J.B., Lukowski C-W., Gostimskaya I., Yurov V., Liuo S.W., Lin T-K., Kunz W., Reymond A., Mazunin I., Bazykin G.A., Fellay J., Tanaka M., Khrapko K., Gunbin K., Popadin K. Secondary structure of the human mitochondrial genome affects formation of deletions. BMC Biology, 2023. doi:10.1186/s12915-023-01606-1
  3. Mikhaylova A.G., Mikhailova A.A., Ushakova K., Tretiakov E.O., Iliushchenko D., Shamansky V., Lobanova V., Kozenkov I., Efimenko B., Yurchenko A.A., Kozenkova E., Zdobnov E., Makeev V., Yurov V., Tanaka M., Gostimskaya I., Fleischmann Z., Annis S., Franco M., Wasko K., Denisov S., Kunz W., Knorre D., Mazunin I., Nikolaev S., Fellay J., Reymond A., Khrapko K., Gunbin K., Popadin K. A mitochondria-specific mutational signature of aging: increased rate of A>G substitutions on a heavy strand. Nucleic Acids Research, 2022. doi:10.1093/nar/gkac779