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
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
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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.
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
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  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
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  givenname: Carmen
  surname: Díez-Sánchez
  fullname: Díez-Sánchez, Carmen
  organization: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Spain
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  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
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ContentType Journal Article
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DocumentTitleAlternate mtDNA Haplogroups and Spermatozoa Motility
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Issue 3
Keywords Human
Spermatozoa
Pathogenesis
Mobility
Exploration
Mitochondrial DNA
Genetic determinism
Semen disorders
Oligospermia
Male sterility
Mutation
Asthenospermia
Caucasoid
Male genital diseases
Haplotype
Language English
License http://www.elsevier.com/open-access/userlicense/1.0
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SSID ssj0011803
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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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pascalfrancis
elsevier
SourceType Open Access Repository
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Index Database
Publisher
StartPage 682
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
URI https://dx.doi.org/10.1086/303040
https://www.ncbi.nlm.nih.gov/pubmed/10936107
https://search.proquest.com/docview/71760128
https://pubmed.ncbi.nlm.nih.gov/PMC1287528
Volume 67
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