Sperm mitochondrial DNA deletion in Iranian infertiles with asthenozoospermia

Namaghi, I. Bahrehmand; Vaziri, Hamidreza

doi:10.1111/and.12627

Cited by 26 publications

(23 citation statements)

References 41 publications

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“…Several studies have suggested that sperm motility and male fertility can be reduced by mtDNA mutations (Baklouti-Gargouri et al, 2013;Zhou and Xie, 2017). Other investigations confirmed the correlation between male infertility and mtDNA deletions Hosseinzadeh Colagar and Karimi, 2014;Chari et al, 2015;Bahrehmand Namaghi and Vaziri, 2017). Talebi et al (2018) recorded deletions of approximately 4977 and 7599 bp in the mtDNA of infertile men.…”

Section: Introductionmentioning

confidence: 90%

Forensic Relationship between ATP6 Gene and Sperm Motility in a Saudi Population

Elsanousi¹,

Javed²,

Sufyan³

et al. 2020

American Journal of Biochemistry and Biotechnology

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Approximately 600 bp of ATP synthase subunit 6 mitochondrial gene (ATP6) were amplified and sequenced for 110 semen samples collected from infertile and normal Saudi men inhabiting Riyadh province. These data were analyzed in order to identify the Single Nucleotide Polymorphisms (SNPs) associated with male infertility. Six silent substitutions G8697A, G8856A, T8889C, T8952C, C9075T and C9060A were recorded with one novel site (G8856A) in the infertile men. Seven non-synonymous substitutions were also obtained with 4 novel sites (C8684T, G8860A, C8876T and G9055A) in the infertile men. Nine haplogroups (H2a, H1a, H5a, T, J2a, K1a, N1b, M25 and U7) were predicted. H5a, M25 and U7 were found in the oligoasthenoteratospermic (AOT) infertile men only with a percentage of 4.5%. It could be concluded that there was a correlation between ATP6 substitutions/haplogroups and male infertility since specific SNPs and haplogroups appeared in the AOT infertile men only. The present results are considered preliminary for using the mitogenome of the infertile men in a forensic perspective. More mtDNA data from infertile men are necessary to assess mtDNA forensic contributions in male fertility. Examination of autosomal Short Tandem Repeats (STRs) and Y chromosome-STR profiles for infertile men should be conducted to ascertain any changes in the genetic loci.

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Section: Introductionmentioning

confidence: 90%

Forensic Relationship between ATP6 Gene and Sperm Motility in a Saudi Population

Elsanousi¹,

Javed²,

Sufyan³

et al. 2020

American Journal of Biochemistry and Biotechnology

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“…If the mtDNA 4977 deletion occurs during spermatogenesis and/or spermiogenesis, the mature spermatozoa are endowed with dysfunctional mitochondria, which can act as a source of ROS. Interestingly, mtDNA 4977 has been recorded in the spermatozoa of infertile males with asthenozoospermia and oligoasthenozoospermia [148,149]. An alternative large-scale mtDNA deletion comprising 7436 bp (mtDNA 7436 ) has also been reported in low-motility human spermatozoa [150].…”

Section: Sperm Dna Modificationsmentioning

confidence: 99%

Molecular Changes Induced by Oxidative Stress that Impair Human Sperm Motility

2020

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A state of oxidative stress (OS) and the presence of reactive oxygen species (ROS) in the male reproductive tract are strongly correlated with infertility. While physiological levels of ROS are necessary for normal sperm functioning, elevated ROS production can overwhelm the cell’s limited antioxidant defenses leading to dysfunction and loss of fertilizing potential. Among the deleterious pleiotropic impacts arising from OS, sperm motility appears to be particularly vulnerable. Here, we present a mechanistic account for how OS contributes to altered sperm motility profiles. In our model, it is suggested that the abundant polyunsaturated fatty acids (PUFAs) residing in the sperm membrane serve to sensitize the male germ cell to ROS attack by virtue of their ability to act as substrates for lipid peroxidation (LPO) cascades. Upon initiation, LPO leads to dramatic remodeling of the composition and biophysical properties of sperm membranes and, in the case of the mitochondria, this manifests in a dissipation of membrane potential, electron leakage, increased ROS production and reduced capacity for energy production. This situation is exacerbated by the production of cytotoxic LPO byproducts such as 4-hydroxynonenal, which dysregulate molecules associated with sperm bioenergetic pathways as well as the structural and signaling components of the motility apparatus. The impact of ROS also extends to lesions in the paternal genome, as is commonly seen in the defective spermatozoa of asthenozoospermic males. Concluding, the presence of OS in the male reproductive tract is strongly and positively correlated with reduced sperm motility and fertilizing potential, thus providing a rational target for the development of new therapeutic interventions.

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“…33 Several studies have also confirmed the significantly higher occurrence of the common mtDNA 4977-bp deletion in patients with asthenozoospermia and oligoasthenoteratozoospermia compared with healthy individuals. 23,26,40 In contradiction with these results, no statistically significant correlation was revealed between the occurrence of the "common" deletion alone and sperm motility classification in percoll fractions 30 or semen quality. 25 In this study, our PCR analysis clearly demonstrated the presence of three large-scale mtDNA deletions of 4.8, 4.9 and 7.4 kb in spermatozoa with different motilities in both AT infertile patients and the normozoospermic group.…”

Section: Discussionmentioning

confidence: 71%