EUROPEAN SOCIETY OF HUMAN GENETICS, Berlin, Almanya, 1 - 04 Haziran 2024, ss.1
Background
Mitochondria is a dynamic organelle that constantly undergoes fusion and fission. These
dynamic processes work in concert to maintain functions of cell and cellular homeostasis. In
process of spermatogenesis, the morphology of mitochondria undergoes significant
modifications, and spermatogonia develop into highly specialized sperm cells that able to
fertilize with perfectly coordinated, healthy mitochondria. Some of major molecules that
mediate mitochondrial fusion and fission have been discovered in mammals, but there are not
yet sufficient studies during spermatogenesis in humans.
Methods
Expression of mitochondrial fusion (OPA1) (MFN1) and mitochondrial fission (MFF) genes as
biomarkers in mitochondrial dynamics was evaluated by RT-PCR in testicular cells taken from
8 infertile men with non-obstructive azoospermia (NOA) and 4 men with obstructive
azoospermia (OA) as the control group.
Results
The expressions of MFN1, OPA1 genes were found to be increased in the NOA group
compared to the OA group. Although the increase in OPA1 gene expression was not
statistically significant, the expression of the MFN1 gene was found to be statistically
significantly increased in the NOA group compared to the OA group.
Conclusion
MFN1 gene expression, which has been investigated for the first time in testicular cells of NOA
patients, may play an important role in mitochondrial fusion in infertile men and may contribute
to the identification of new biomarkers and the development of treatment protocols for infertile
patients with mitochondrial dynamic defects. More clear results will be obtained when the study
is concluded by increasing the number of patients.
Grants
This study was supported by Ankara University(BAP) (Project No:TDK-2022-2640)