Open AccessMitochondrial DNA mutations in etiopathogenesis of male infertility
Author(s) -
Monis Bilal Shamsi,
Rakesh Kumar,
Audesh Bhat,
R. Bamezai,
Rajeev Kumar,
Narmada P. Gupta,
Tuhin Das,
Rima Dada
Publication year - 2008
Publication title -
indian journal of urology/indian journal of urology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.333
H-Index - 30
eISSN - 1998-3824
pISSN - 0970-1591
DOI - 10.4103/0970-1591.40606
Subject(s) - medicine , mitochondrial dna , infertility , genetics , male infertility , bioinformatics , gynecology , computational biology , gene , pregnancy , biology
To understand role of mitochondrial (mt) mutations in genes regulating oxidative phosphorylation (OXPHOS) in pathogenesis of male infertility. Infertility affects approximately 15% of couples trying to conceive. Infertility is frequently attributed to defects of sperm motility and number. Mitochondrion and mitochondrial DNA (mtDNA) play an important role in variety of physiological process. They control the oxidative energy supply and thus are central to growth, development and differentiation. Mitochondrial function is controlled by a fine-tuned crosstalk between mtDNA and nuclear DNA (nDNA). As mitochondria supply energy by OXPHOS, any mutation in mtDNA disrupts adenosine triphosphate (ATP) production and thus result in an impaired spermatogenesis and impaired flagellar movement. As sperm midpiece has few mtDNA copies, thus enhanced number of mutant mtDNA results in early phenotypic defect which manifest as spermatogenic arrest or asthenozoospermia. Oxidative stress and mtDNA mutations are positively correlated and mutations in mitochondrial genome (mt genome) are implicated in the lowered fertilising capacity of the sperm and affects the reproductive potential of an individual.