Etiologi Infertilitas pada Pria Akibat dari Mutasi DNA Mitokondria (mtDNA)

Sri Utami


Infertility has affected about 10–15 per cent married couples. Almost half of infertility cases have been attributed to men with low sperm motility (asthenozoospermia), low sperm count (oligozoospermia), and abnormal sperm morphology (teratozoospermia). Sperm motility is one of the major determinants of male fertility and is required for successful fertilization. Mitochondrion and mitochondrial DNA (mtDNA) play an important role in a variety of physiological processes. The mitochondrial function is controlled by a collaboration of nDNA and mtDNA. The accumulation of mtDNA mutations has been suggested to be an important contributor to human aging and degenerative diseases, and it can also impair the formation of sperm dysfunction. As mitochondria supply energy by oxidative phosphorilation system (OXPHOS), any mutation in mtDNA will disrupt ATP production and thus result in an impaired spermatogenesis and flagellar movement. More than 100 point mutations have been known to be associated with various human mitochondrial diseases, but so far only a few studies have reported mutations in mtDNA of the spermatozoa. An mtDNA mutation will comprise point mutation, microdeletion, multiple deletion, translocation, and haplogroup mtDNA.



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