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Published on: September 10, 2021
Mediterranean fever gene mutation analysis in infertile Turkish males
1Department of Medical Biology and Genetics, Faculty of Medicine, Firat University, Elazig, Turkey. ebruetem@gmail.com
Abstract:
Male infertility is a common barrier that prevents successful conception. There have been reports of azoospermia in men with familial Mediterranean fever, some of whom had not been treated with colchicine. Variation in this disorder could be a risk factor for amyloidosis associated with azoospermia. We determined the frequency of 6 of the most common Mediterranean fever gene mutations, M680I, M694V, M694I, V726A, P369S, and A744S, in 74 infertile men, 155 men diagnosed with familial Mediterranean fever and 55 healthy fertile men in eastern Turkey. All three groups were screened for the 6 mutations using an amplification refractory mutation system and restriction fragment length polymorphism methods. Allelic frequencies were 2.7% for M694V and 1.35% for V726A in the infertile patient group and 1.8% for M694V and 1.8% for V726A in healthy subjects. Other mutations were not detected in patients or controls. The mutation frequency was not found to be significantly higher in infertile patients when compared with healthy fertile male controls. To our knowledge, this is the first study to determine the frequency of Mediterranean fever gene mutations in infertile male and the infertility rate of male patients with familial Mediterranean fever.
Insights
Familial Mediterranean fever gene mutations were not found to be more frequent in infertile men compared to healthy controls. This suggests these specific gene variations are not a primary risk factor for male infertility in this population.
Area of Science:
- Genetics
- Reproductive Medicine
- Immunology
Background:
- Male infertility affects conception rates, with some azoospermia cases linked to familial Mediterranean fever (FMF).
- The role of FMF gene variations in male infertility, particularly concerning amyloidosis risk, requires further investigation.
Purpose of the Study:
- To determine the frequency of common Mediterranean fever gene mutations in infertile males and FMF patients.
- To assess if these mutations are a risk factor for male infertility.
Main Methods:
- Screening of 74 infertile men, 155 FMF patients, and 55 healthy men for 6 common FMF gene mutations (M680I, M694V, M694I, V726A, P369S, A744S).
- Utilized amplification refractory mutation system and restriction fragment length polymorphism techniques for mutation detection.
Main Results:
- Allelic frequencies for M694V (2.7%) and V726A (1.35%) were observed in the infertile group.
- Similar frequencies of M694V (1.8%) and V726A (1.8%) were found in healthy controls.
- No significant difference in mutation frequency was detected between infertile patients and healthy fertile males.
Conclusions:
- The studied Mediterranean fever gene mutations do not appear to be a significant risk factor for male infertility in the studied Turkish population.
- This study provides initial data on FMF gene mutation frequencies in infertile males and FMF-associated infertility rates.
