Mitochondrial DNA Haplogroups in Kuwaiti Infertile Males

摘要

A variety of mtDNA mutations responsible for human diseases have been associated with molecular defects in the OXPHOS system. It has been proposed that mtDNA genetic alterations can also be responsible for sperm dysfunction. To investigate any possible association between infertility and mtDNA haplogroups (hg), the nucleotide sequence of the Hypervariable Segment I (HVS-I) of mtDNA was determined in 99 unrelated Kuwaiti patients with infertility and 64 normal controls with the same ethnicity. DNA wasextracted from the peripheral blood after having obtained informed consent. The nucleotide sequence of HVS-I (np 16,024-16383) was directly determined. High-resolution RFLP analysis and control-region sequencing revealed high proportion of haplogroup Jand M in normal controls (64% and 20.3%) compared to infertile men (26.2% and 8.1%) respectively. (P= 0.002 for J and 0.03 for M) Therefore, we hypothesize that individuals classified as haplogroup J and M demonstrate a significant decrease in risk of infertility in Kuwaiti population.