‘Infertile’ studies on mitochondrial DNA variation in asthenozoospermic Tunisian men

Salas, Antonio; Martinón-Torres, Federico; Gómez-Carballa, Alberto

doi:10.1016/j.bbrep.2016.08.002

Cited by 2 publications

(2 citation statements)

References 34 publications

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“…The mtDNA rearrangement has been stated in asthenozoospermic patients [ 49 ]. The mtDNA variation has been established in the framework of various multifactorial diseases [ 23 , 50 , 51 ]. While mitochondrial mutations and their correlation to male infertility have been broadly investigated, there are still contradictions in data.…”

Section: Discussionmentioning

confidence: 99%

“…Most SNPs are situated in non-coding regions of the genome and have no direct identified impact on the phenotype of an individual, but their character till now stays elusive, and liable on where SNPs happen; it might have unlike consequences at the phenotypic level [22]. Many studies reported that there is an association between the presence of mitochondrial DNA (mtDNA) variation and infertility in the Tunisian [23], Jordanian [24], and Iranian [25] populations.…”

Section: Introductionmentioning

confidence: 99%

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Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

Elrahman

Makawy

Hassanane

et al. 2021

Journal of Genetic Engineering and Biotechnology

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Background Asthenozoospermia is a chief reason for male seminal pathologies with an impression of around 19% of infertile patients. Spermatozoa mitochondrial DNA variations seem to link with low sperm motility. The objective of the study was to assess the relation between mitochondrial mutations and male sterility, especially in asthenozoospermia. The patient semen samples were investigated by studying the sperm physical characters; motility, viability, and morphological parameters were then classified into normozoospermia and asthenozoospermia. In addition, the level of malondialdehyde (MDA) as a bio-indicator of lipid peroxidation, seminal fructose, and total antioxidant capacity (TAC) were estimated. For molecular analysis, DNA from the semen samples was extracted using a DNA extraction kit. ND1, ND2, and ATPase6 genes were amplified by using a specific primer. After the purification procedure, each PCR product was sequenced to identify the single nucleotide polymorphisms (SNPs) in selected genes. Results A significant negative correlation between seminal plasma malondialdehyde levels and sperm motility was detected. Meanwhile, TAC analysis revealed significantly lower activity (p ≤ 0.05) in the sample of asthenozoospermic than in normozoospermic men. As regards the seminal plasma fructose, there was no significant difference in the fructose level of normozoospermia and asthenozoospermia cases. At the molecular level, 31 diverse nucleotide substitutions were recognized in mitochondrial DNA. Only ten (10) mutations led to amino acid transformation: four have deleterious effects, four are benign, and the other two have conflicting effectiveness. Conclusions This study is the first in Egypt that is concerned with studying the relationship between the mitochondrial DNA mutations in human spermatozoa of asthenozoospermic patients and fertility. The results displayed scientific indications evidenced that there is an association between mitochondrial mutations and male infertility.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

Elrahman

Makawy

Hassanane

et al. 2021

Journal of Genetic Engineering and Biotechnology

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Genetic epidemiology of male infertility (MI) in Arabs: a systematic review

Okashah

Abunada

Zayed

2022

Reprod. Fertil. Dev.

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Although Male Infertility (MI) in Arabs is fairly common, there is a dearth in published reports of genetic epidemiology of MI among Arabs. This study aimed to review the existing literature reporting the variants that are associated with MI in the 22 Arab countries. We searched four literature databases (PubMed, Science Direct, Scopus, and Web of Science) from the time of inception until April 2021 using broad search terms to capture all reported genetic data related to Arab patients with MI. Our search strategy identified 3488 articles, of these 34 were eligible for this systemic review. We retrieved data from nine Arab Countries (Tunisia, Algeria, Morocco, Syria, Jordan, Yemen, Iraq, Egypt and Lebanon). Only 2597 patients and 10 families with MI were identified and compared to 3721 controls. Our search strategy identified 25 genes, including 89 variants: 52.7% are shared with other ethnic groups, 41.7% are unique to Arab patients, and 5.6% are common among Arabs. Azoospermia (41.18%) was the most frequently reported phenotype. This is the first systematic review to capture reported variants associated with MI among the Arab populations. Although Arabs seem to share genetic profiles with other ethnicities, they have distinctive genotype-phenotype correlations for some of genetic variants.

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‘Infertile’ studies on mitochondrial DNA variation in asthenozoospermic Tunisian men

Cited by 2 publications

References 34 publications

Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

Genetic epidemiology of male infertility (MI) in Arabs: a systematic review

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