Human mtDNA haplogroups associated with high or reduced spermatozoa motility

A variety of mtDNA mutations responsible for human diseases have been assoc iated with molecular defects in the OXPHOS system. It has been proposed tha t mtDNA genetic alterations can also be responsible for sperm dysfunction. In addition, it was suggested that if sperm dysfunction is the main phenoty pic consequence, these mutations could be fixed as stable mtDNA variants, b ecause mtDNA is maternally inherited. To test this possibility, we have per formed an extensive analysis of the distribution of mtDNA haplogroups in wh ite men having fertility problems. We have found that asthenozoospermia, bu t not oligozoospermia, is associated with mtDNA haplogroups in whites. Thus , haplogroups H and T are significantly more abundant in nonasthenozoosperm ic and asthenozoospermic populations, respectively, and show significant di fferences in their OXPHOS performance.