Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility
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 phenoty...
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Published in: | American journal of human genetics Vol. 67; no. 3; pp. 682 - 696 |
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Main Authors: | , , , , , , , , , , |
Format: | Journal Article |
Language: | English |
Published: |
Chicago, IL
Elsevier Inc
01-09-2000
University of Chicago Press The American Society of Human Genetics |
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Abstract | 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. |
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AbstractList | 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. |
Author | Montoya, Julio López-Pérez, Manuel J. Ruiz-Pesini, Eduardo Díaz, Miguel Montoro, Luis Lapeña, Ana-Cristina Alvarez, Enrique Urriés, Antonio Díez-Sánchez, Carmen Pérez-Martos, Acisclo Enríquez, José A. |
AuthorAffiliation | 1 Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, 2 Unidad de Andrología. Hospital 12 de Octubre de Madrid, 3 Clínica Ginecológica de Zaragoza, and 4 Nueva Clínica Quirón de Zaragoza, Zaragoza, Spain; and 5 Laboratorio de Reproducción Humana, Hospital Principe de Asturias, Alcalá de Henares, Madrid |
AuthorAffiliation_xml | – name: 1 Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, 2 Unidad de Andrología. Hospital 12 de Octubre de Madrid, 3 Clínica Ginecológica de Zaragoza, and 4 Nueva Clínica Quirón de Zaragoza, Zaragoza, Spain; and 5 Laboratorio de Reproducción Humana, Hospital Principe de Asturias, Alcalá de Henares, Madrid |
Author_xml | – sequence: 1 givenname: Eduardo surname: Ruiz-Pesini fullname: Ruiz-Pesini, Eduardo organization: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Spain – sequence: 2 givenname: Ana-Cristina surname: Lapeña fullname: Lapeña, Ana-Cristina organization: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Spain – sequence: 3 givenname: Carmen surname: Díez-Sánchez fullname: Díez-Sánchez, Carmen organization: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Spain – sequence: 4 givenname: Acisclo surname: Pérez-Martos fullname: Pérez-Martos, Acisclo organization: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Spain – sequence: 5 givenname: Julio surname: Montoya fullname: Montoya, Julio organization: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Spain – sequence: 6 givenname: Enrique surname: Alvarez fullname: Alvarez, Enrique organization: Unidad de Andrología. Hospital 12 de Octubre de Madrid, Spain – sequence: 7 givenname: Miguel surname: Díaz fullname: Díaz, Miguel organization: Clínica Ginecológica de Zaragoza, Spain – sequence: 8 givenname: Antonio surname: Urriés fullname: Urriés, Antonio organization: Nueva Clínica Quirón de Zaragoza, Zaragoza, Spain – sequence: 9 givenname: Luis surname: Montoro fullname: Montoro, Luis organization: Laboratorio de Reproducción Humana, Hospital Principe de Asturias, Alcalá de Henares, Madrid – sequence: 10 givenname: Manuel J. surname: López-Pérez fullname: López-Pérez, Manuel J. organization: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Spain – sequence: 11 givenname: José A. surname: Enríquez fullname: Enríquez, José A. email: enriquez@posta.unizar.es organization: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Spain |
BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1486063$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/10936107$$D View this record in MEDLINE/PubMed |
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Keywords | Human Spermatozoa Pathogenesis Mobility Exploration Mitochondrial DNA Genetic determinism Semen disorders Oligospermia Male sterility Mutation Asthenospermia Caucasoid Male genital diseases Haplotype |
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Snippet | 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... |
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SubjectTerms | 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 |
Title | Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility |
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