Mitochondrial Genetics and its Role in Female Infertility: Molecular Insights"

Mitochondria Female Infertility Pathogenesis Of Mtdna

Authors

  • Dr. Aseel Mahmood Khadim M.B.Ch.B., C.A.C.M.S. \ (Obstetrician and Gynecologist) Iraqi Ministry of Health, Anbar Health Directorate, Ramadi Teaching Hospital for Maternity and Children, Anbar, Iraq
  • Dr. Estabraq Ali Al-Waily M.B.Ch.B., C.A.B.O.G., D.O.G. \ (Obstetrician and Gynecologist), Fellowship of the Arab Board in Obstetrics and Gynecology, Subspecialty Fellowship in Gynecologic Oncology, Iraqi Board of Medical Specialization Iraqi Ministry of Health, Medical City Directorate, Baghdad Teaching Hospital, Baghdad, Iraq
  • Dr. Hadeel Azawe Ali M.B.Ch.B., C.A.B.O.G., D.O.G. \ (Obstetrician and Gynecologist), Iraqi Ministry of Health, Al-Russafa Health Directorate, Al-Alaweha Teaching Hospital, Baghdad, Iraq
December 23, 2025

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Mitochondria is the power plants of the cell, of infertility caused by poor quality and aging of oocytes. A factor that is often ignored but that is involved in the decrease in the quality of oocytes are mitochondrial DNA abnormalities, where it is responsible for the production of more than 90% of the adenosine triphosphate (ATP) necessary for cellular function by oxidative phosphorylation. These abnormalities affect the energy production of mitochondria, the dynamic balance of the mitochondrial network, and the pathogenesis of mtDNA diseases in the offspring. The purpose of the current study, we evaluated clinical findings of infertile women in comparison with non-sterile women and analysis the impact of mitochondrial genetics on patients.

A total of 90 participants had enrolled in demographic and clinical outcomes in this cross–sectional study. The current study was divided into clinical data, including mitochondrial, copy number, and pathogenic mutations DNA of 90 cases, where the 60 participants were infertile women, while 30 cases were healthy women. It is also assessed mitochondrial membrane potential in the women.

Our findings showed that the H group of mtDNA got 30.0% of infertile women and 36.7% of healthy women. According to mitochondrial copy number, we found these items of nuclear DNA had different estimations, where infertile women had 125.4 ± 35.2 of peripheral blood and 88.7 ± 28.5 of endometrial tissue, while the healthy women group had 158.9 ± 42.1 of peripheral blood and 121.3 ± 31.8 of endometrial tissue. This study was also domonstrated that primary infertility patients have indicated 33.3% of low mtDNA, while secondary infertility patients have 44.4% of low mtDNA. Furthermore, these findings have shown a low mitochondrial membrane potential of 36.7% for the infertile women group, but 13.3% for the healthy women group.

Our study concludes that there is a positive correlation between each of mitochondria and genetic vulnerability, which have a significantly impact in causing of infertility in women.

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