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Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility

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  • Radhia M'kacher, DNA Damage Research & Development
  • ,
  • Bruno Colicchio, Institut de Recherche en Informatique de Toulouse
  • ,
  • Valentine Marquet, Centre hospitalo-universitaire Dupuytren
  • ,
  • Claire Borie, Inserm, CESP, U1018, Villejuif, France; Univ Paris-Sud, UMRS 1018, Villejuif, France; Gustave Roussy Institute, F-94800 Villejuif, France.
  • ,
  • Wala Najar, DNA Damage Research & Development
  • ,
  • William M Hempel, DNA Damage Research & Development
  • ,
  • Leonhard Heidingsfelder, MetaSystems GmbH
  • ,
  • Noufissa Oudrhiri, Inserm, CESP, U1018, Villejuif, France; Univ Paris-Sud, UMRS 1018, Villejuif, France; Gustave Roussy Institute, F-94800 Villejuif, France.
  • ,
  • Mustafa Al Jawhari, DNA Damage Research & Development
  • ,
  • Nadège Wilhelm-Murer, Service de Génétique Groupe Hospitalier de la Région de Mulhouse et Sud Alsace Mulhouse
  • ,
  • Marguerite Miguet, Service de Génétique Groupe Hospitalier de la Région de Mulhouse et Sud Alsace Mulhouse
  • ,
  • Alain Dieterlen, Institut de Recherche en Informatique de Toulouse
  • ,
  • Georges Deschênes, Department of Endocrinology and Nephrology
  • ,
  • Anne-Claude Tabet, Cytogenetic Laboratory
  • ,
  • Steffen Junker
  • Michael Grynberg, Department of Reproductive Medicine and Fertility Preservation
  • ,
  • Michael Fenech, Univ South Australia, University of South Australia, Future Ind Inst
  • ,
  • Annelise Bennaceur-Griscelli, Inserm, CESP, U1018, Villejuif, France; Univ Paris-Sud, UMRS 1018, Villejuif, France; Gustave Roussy Institute, F-94800 Villejuif, France.
  • ,
  • Philippe Voisin, DNA Damage Research & Development
  • ,
  • Patrice Carde, Department of Hematology
  • ,
  • Eric Jeandidier, Service de Génétique Groupe Hospitalier de la Région de Mulhouse et Sud Alsace Mulhouse
  • ,
  • Catherine Yardin, University of Limoges

OBJECTIVE: To test the hypothesis that telomere shortening and/or loss are risk factors for infertility.

DESIGN: Retrospective analysis of the telomere status in patients with infertility using conventional cytogenetic data collected prospectively.

SETTING: Academic centers.

PATIENT(S): Cytogenetic slides with cultured peripheral lymphocytes from 50 patients undergoing fertility treatment and 150 healthy donors, including 100 donors matched for age.

INTERVENTION(S): Cytogenetic slides were used to detect chromosomal and telomere aberrations.

MAIN OUTCOME MEASURE(S): Telomere length and telomere aberrations were analyzed after telomere and centromere staining.

RESULT(S): The mean telomere length of patients consulting for infertility was significantly less than that of healthy donors of similar age. Moreover, patients with infertility showed significantly more extreme telomere loss and telomere doublet formation than healthy controls. Telomere shortening and/or telomere aberrations were more pronounced in patients with structural chromosomal aberrations. Dicentric chromosomes were identified in 6/13 patients, with constitutional chromosomal aberrations leading to chromosomal instability that correlated with chromosomal end-to-end fusions.

CONCLUSION(S): Our findings demonstrate the feasibility of analyzing telomere aberrations in addition to chromosomal aberrations, using cytogenetic slides. Telomere attrition and/or dysfunction represent the main common cytogenetic characteristic of patients with infertility, leading to potential implications for fertility assessment. Pending further studies, these techniques that correlate the outcome of assisted reproduction and telomere integrity status may represent a novel and useful diagnostic and/or prognostic tool for medical care in this field.

Original languageEnglish
JournalFertility and Sterility
Volume115
Issue1
Pages (from-to)164-173
Number of pages10
ISSN0015-0282
DOIs
Publication statusPublished - Jan 2021

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