Background Idiopathic male infertility can be attributed to genetic predispositions that afect sperm performance and
function. Genetic alterations in the mitochondrial DNA (mtDNA) have been linked to certain types of male infertility and
abnormal sperm function. Mutations in the mitochondrial cytochrome B (MT-CYB) gene might lead to some defciencies
in mitochondrial function. Thus, in the current study, we aimed to investigate the efect of mutations in the MT-CYB gene
on sperm motility and male infertility.
Methods and results Semen specimens were collected from 111 men where 67 men were subfertile and 44 were fertile.
QIAamp DNA Mini Kit and REPLI-g Mitochondrial DNA Kit from QIAGEN were used to isolate and amplify the mito chondrial DNA. Followed by PCR and Sanger sequencing for the target sequence in the MT-CYP gene. Sequencing of the
MT-CYB gene revealed a total of thirteen single nucleotide polymorphisms (SNPs). Eight SNPs were non-synonymous vari ant (missense variant) including: rs2853508, rs28357685, rs41518645, rs2853507, rs28357376, rs35070048, rs2853506,
and rs28660155. While fve SNPs were Synonymous variant: rs527236194, rs28357373, rs28357369, rs41504845, and
rs2854124. Among these SNPs, three variants showed a signifcant diference in the frequency of the genotypes between
subfertile and fertile groups: rs527236194 (T15784C) (P=0.0005), rs28357373 (T15629C) (P=0.0439), and rs41504845
(C15833T) (P=0.0038). Moreover, two SNPs showed a signifcant association between allelic frequencies of rs527236194
(T15784C) (P=0.0014) and rs41504845 (C15833T) (P=0.0147) and male subfertility.
Conclusion The current study showed a signifcant association between the MT-CYB gene polymorphisms and the develop ment of male infertility. In particular, rs527236194, rs28357373 and rs41504845 variants were found to be the most related
to the subfertility group. Further studies on larger and other populations are required to reveal the exact role of this gene in
the development of male infertility. In addition, functional studies will be helpful to elucidate the molecular impact of the
MT-CYP polymorphisms on mitochondrial function
