PGT-mt图谱
Ilya Mazunin

PGT-mt图谱创建与维护者

Ilya Mazunin

生物科学博士（DSc），遗传学

  • 莫斯科斯科尔科沃科学技术学院（Skoltech）高级研究员
  • 莫斯科彼得罗夫斯基医科大学生物学与遗传学教研室主任

研究健康与疾病状态下人类线粒体基因组的遗传学家及分子生物学家。

科研履历

科研之路

Ilya Mazunin研究人类线粒体基因组。从研究生阶段起，他研究遗传病相关mtDNA致病性变异。其mtDNA突变分布研究扩展至发生机制、预防传递及基因治疗策略。

其研究包括基于CRISPR-Cas9、CRISPR-Cas12a与原核Argonaute蛋白的mtDNA编辑工具，以及PGT-mt、线粒体捐赠等预防致病性变异传递方法。

Ilya Mazunin任教于彼得罗夫斯基医科大学，主持 生物学与遗传学教研室.

项目职责

Ilya Mazunin创建PGT-mt图谱，作为独立国际资源，收录植入前遗传学检测已发表个体mtDNA异质性数值，每个数值均可溯源。

代表性论文

按研究领域

PGT-mt及线粒体病预防

  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

生殖遗传学

  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

线粒体基因组编辑

  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

线粒体基因组变异与突变发生

  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