• PMID: 24996497
• Gene Name: DMRT2
• Condition: Idiopathic infertility
• Association: Telomere homeostasis is impaired in infertile patients, and this was translated into a decrease in TERRA levels together with an alteration of the TERRA-protein component of telomerase telomeric association in primary spermatocytes.
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic infertility

Telomere homeostasis is compromised in spermatocytes from patients with idiopathic infertility

Reig-Viader R, Capilla L, Vila-Cejudo M, Garcia F, Anguita B, Garcia-Caldés M, Ruiz-Herrera A.

OBJECTIVE: To study whether the telomere structure of germ cells from idiopathic infertile men is altered and if this impairment is influenced by meiotic recombination and telomere length. DESIGN: We performed a detailed analysis of both telomeric repeat-containing RNA (TERRA) and telomerase distribution in testis cell spreads by combining immunofluorescence and RNA fluorescent in situ hybridization. In addition we analyzed meiotic recombination between homologous chromosomes by immunofluorescence and telomere length by quantitative fluorescent in situ hybridization. SETTING: University. PATIENT(S): Men consulting for fertility problems. INTERVENTION(S): Unilateral testicular biopsies. MAIN OUTCOME MEASURE(S): We observed that TERRA levels and its nuclear distribution were compromised in infertile patients. In addition, the presence of the protein component of telomerase at telomeres decreased in the affected patients. However, neither telomerase-TERRA association nor telomere length was altered in spermatocytes I of infertile samples compared with control individuals. In addition, we observed that meiotic recombination was reduced in infertile individuals. RESULT(S): Telomere homeostasis is impaired in infertile patients, and this was translated into a decrease in TERRA levels together with an alteration of the TERRA-protein component of telomerase telomeric association in primary spermatocytes. CONCLUSION(S): This study demonstrates for the first time that telomere structure and homeostasis in germ cells is compromised in infertile individuals. In the light of our results we propose that the analysis of telomeric structure (i.e., TERRA levels and telomere association with TERRA and telomerase) would provide new tools for our understanding of the origin of human infertility. CI - Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Reig-Viader, Rita AU - Reig-Viader R AD - Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain; Institut de Biotecnologia i Biomedicina (IBB), Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain. FAU - Capilla, Laia AU - Capilla L AD - Institut de Biotecnologia i Biomedicina (IBB), Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain. FAU - Vila-Cejudo, Marta AU - Vila-Cejudo M AD - Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain. FAU - Garcia, Ferrán AU - Garcia F AD - Fecunmed, Casals s/n, Granollers, Spain. FAU - Anguita, Begoña AU - Anguita B AD - Fecunmed, Casals s/n, Granollers, Spain. FAU - Garcia-Caldés, Montserrat AU - Garcia-Caldés M AD - Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain; Institut de Biotecnologia i Biomedicina (IBB), Universitat Autònoma de Barcelona, Campus UAB, Cerdanyola del Vallès, Spain.