Mitochondrial genome integrity in human oocytes: duplex sequencing explores endometriosis-associated germline mutagenesis

Autori

  • Teresa Kloimböck Department of Gynaecology, Obstetrics and Gynaecological Endocrinology, Experimental Gynaecology and Obstetrics, Johannes Kepler University, Linz, Austria
  • Sanaz Samadpoor Department of Gynaecology, Obstetrics and Gynaecological Endocrinology, Experimental Gynaecology and Obstetrics, Johannes Kepler University, Linz, Austria
  • Shehab Moukble Ali Aldawla Department of Biophysics, Johannes Kepler University, Linz, Austria
  • Thomas Ebner Department of Gynaecology, Obstetrics and Gynaecological Endocrinology, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria
  • Peter Oppelt Department of Gynaecology, Obstetrics and Gynaecological Endocrinology, Experimental Gynaecology and Obstetrics, Johannes Kepler University, Linz, Austria
  • Omar Shebl Department of Gynaecology, Obstetrics and Gynaecological Endocrinology, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria
  • Barbara Arbeithuber Department of Gynaecology, Obstetrics and Gynaecological Endocrinology, Experimental Gynaecology and Obstetrics, Johannes Kepler University, Linz, Austria

DOI:

https://doi.org/10.26124/bec2026-0006

Cuvinte cheie:

single oocyte, mtDNA, duplex sequencing, germline mutagenesis, NUMTs

Rezumat

Contribution to MiP2026 

Cite: Kloimboeck T, Samadpoor S, Moukble Ali Aldawla S, Ebner T, Oppelt P, Shebl O, Arbeithuber B (2026) A mouse model of acute subdural hematoma under clinically realistic intensive care conditions: insights into effects on mitochondrial respiratory activity. Bioenerg Commun 2026.6. https://doi.org/10.26124/bec2026-0006

Referințe

Arbeithuber B, Anthony K, Higgins B, Oppelt P, Shebl O, Tiemann-Boege I, Chiaromonte F, Ebner T, Makova KD (2025) Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations. https://doi.org/10.1126/sciadv.adw4954

Creed JM, Maggrah A, Usher R, Desa E, Harbottle A (2020) How Can Mitochondrial DNA Deletions Act As A Biomarker for the Detection of Endometriosis Within the Clinic? https://doi.org/10.2217/bmm-2019-0435

Habbane M, Montoya J, Rhouda T, Sbaoui Y, Radallah D, Emperador S (2021) Human Mitochondrial DNA: Particularities and Diseases. https://doi.org/10.3390/biomedicines9101364

Kennedy SR, Schmitt MW, Fox EJ, Kohrn BF, Salk JJ, Ahn EH, Prindle MJ, Kuong KJ, Shen J-C, Risques R-A, Loeb LA (2014) Detecting ultralow-frequency mutations by Duplex Sequencing. https://doi.org/10.1038/nprot.2014.170

Kloimboeck T, Ebner T, Makova K, Arbeithuber B (2026) Protocol for Duplex Sequencing of Mitochondrial DNA in Single Human Oocytes. https://doi.org/10.3791/73071

Pakendorf B, Stoneking M (2005) Mitochondrial DNA and human evolution. https://doi.org/10.1146/annurev.genom.6.080604.162249

Shoubridge EA, Wai T (2007) Mitochondrial DNA and the Mammalian Oocyte. In: Current Topics in Developmental Biology, The Mitochondrion in the Germline and Early Development. https://doi.org/10.1016/S0070-2153(06)77004-1

Stoler N, Arbeithuber B, Guiblet W, Makova KD, Nekrutenko A (2016) Streamlined analysis of duplex sequencing data with Du Novo. https://doi.org/10.1186/s13059-016-1039-4

The Galaxy Community (2024) The Galaxy platform for accessible, reproducible, and collaborative data analyses: 2024 update. https://doi.org/10.1093/nar/gkae410

Xu B, Guo N, Zhang X, Shi W, Tong X, Iqbal F, Liu Y (2015) Oocyte quality is decreased in women with minimal or mild endometriosis. https://doi.org/10.1038/srep10779

Descărcări

Publicat

2026-11-13

Număr

Volum 2026

Secțiune

Living Communications

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Licență

Copyright (c) 2026 Teresa Kloimböck, Sanaz Samadpoor , Shehab Moukble Ali Aldawla , Thomas Ebner, Peter Oppelt, Omar Shebl, Barbara Arbeithuber

Creative Commons License

TAceastă lucrare este licențiată în temeiul Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Cum cităm

Kloimböck, T., Samadpoor , S., Moukble Ali Aldawla , S., Ebner, T., Oppelt, P., Shebl, O., & Arbeithuber, B. (2026). Mitochondrial genome integrity in human oocytes: duplex sequencing explores endometriosis-associated germline mutagenesis. Bioenergetics Communications, 2026, 6. https://doi.org/10.26124/bec2026-0006