Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men

Abstract

In this study we performed a systematic sequence analysis of 6 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, and cytochrome b] in 66 infertile men suffering from asthenospermia (n=34) in comparison to normospermic infertile men (n=32) and fertile men (n=100) from Tunisian population. A total of 72 nucleotide substitutions in blood cells mitochondrial DNA were found; 63 of them were previously identified and reported in the human mitochondrial DNA database ( www.mitomap.org ) and 9 were novel. We also detected in 3 asthenospermic patients a novel heteroplasmic missense mitochondrial mutation (m.9387 G>A) in COXIII gene (8.8%) that was not found in any of normospermic infertile and fertile men. This mutation substituting the valine at position 61 to methionine in a conserved amino acid in the transmembrane functional domain of the polypeptide, induces a reduction of the hydropathy index (from +1.225 to +1.100) and a decrease of the protein 3D structures number (from 39 to 32) as shown by PolyPhen bioinformatic program.

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

“…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).…”

Sperm mitochondrial DNA deletion in Iranian infertiles with asthenozoospermia

“…Up to now, several single nucleotide polymorphisms (SNPs) in the mitochondrial genes were found to be associated with diabetes, encephalopathy, lactic acidosis, strokelike syndrome, neurological disorders and male infertility (Baklouti‐Gargouri et al., ). MtDNA large‐scale deletions result in complete removal or truncation of some structural genes and tRNA genes.…”

Fast Mitochondrial DNA Isolation from Mammalian cells for Next-Generation Sequencing

“…Mitochondrial genomes lack histone protection and reside in close proximity to reactive oxygen species. These factors, as well as limited fidelity of mtDNA replication and repair machineries, ensure a much higher mutation rate in the mitochondrial genome than in the nuclear genome (1,2), leading to heterogeneity within the mtDNA population (3,4). However, any deleterious effects of random mutations in mtDNA are compensated by the presence of multiple mitochondria in each cell.…”