Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility

• Published in: American journal of human genetics Vol. 67; no. 3; pp. 682 - 696
• Main Authors: Ruiz-Pesini, Eduardo, Lapeña, Ana-Cristina, Díez-Sánchez, Carmen, Pérez-Martos, Acisclo, Montoya, Julio, Alvarez, Enrique, Díaz, Miguel, Urriés, Antonio, Montoro, Luis, López-Pérez, Manuel J., Enríquez, José A.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01-09-2000; University of Chicago Press; The American Society of Human Genetics
• Subjects: Base Sequence; Biological and medical sciences; Birth control; DNA, Mitochondrial - genetics; European Continental Ancestry Group - genetics; Extrachromosomal Inheritance - genetics; Female; Gene Frequency - genetics; Gynecology. Andrology. Obstetrics; Haplotypes - genetics; Heterozygote; Humans; Infertility, Male - genetics; Infertility, Male - pathology; Male; Medical sciences; Mitochondria - enzymology; Mitochondria - genetics; Mitochondria - metabolism; Mutation - genetics; Oxidative Phosphorylation; Phenotype; Polymorphism, Genetic - genetics; RNA, Transfer - genetics; Sperm Motility - genetics; Sperm Tail - physiology; Spermatozoa - enzymology; Spermatozoa - metabolism; Spermatozoa - pathology; Spermatozoa - physiology; Sterility. Assisted procreation; Human; Spermatozoa; Pathogenesis; Mobility; Exploration; Mitochondrial DNA; Genetic determinism; Semen disorders; Oligospermia; Male sterility; Mutation; Asthenospermia; Caucasoid; Male genital diseases; Haplotype
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/303040

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. In addition, it was suggested that if sperm dysfunction is the main phenotypic consequence, these mutations could be fixed as stable mtDNA variants, because mtDNA is maternally inherited. To test this possibility, we have performed an extensive analysis of the distribution of mtDNA haplogroups in white men having fertility problems. We have found that asthenozoospermia, but not oligozoospermia, is associated with mtDNA haplogroups in whites. Thus, haplogroups H and T are significantly more abundant in nonasthenozoospermic and asthenozoospermic populations, respectively, and show significant differences in their OXPHOS performance.