Apoptosis and meiotic segregation in ejaculated sperm from Robertsonian translocation carrier patients

Autor: Franck Pellestor, Christine Artonne, Claude Darcha, C. Szczepaniak, Florence Brugnon, Y. Communal, P. Vago, Laurent Janny, Hanae Pons-Rejraji, Geneviève Grizard
Přispěvatelé: CHU Clermont-Ferrand
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Infertility
Male
endocrine system
Heterozygote
[SDV]Life Sciences [q-bio]
Robertsonian translocation
Semen
Chromosomal translocation
Apoptosis
Chromosome Disorders
DNA Fragmentation
[SDV.BC]Life Sciences [q-bio]/Cellular Biology
Biology
[SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics
medicine.disease_cause
Translocation
Genetic
03 medical and health sciences
0302 clinical medicine
Chromosome Segregation
medicine
In Situ Nick-End Labeling
Humans
Ejaculation
Fragmentation (cell biology)
[SDV.BDD]Life Sciences [q-bio]/Development Biology
In Situ Hybridization
Fluorescence
ComputingMilieux_MISCELLANEOUS
030304 developmental biology
0303 health sciences
030219 obstetrics & reproductive medicine
urogenital system
[SDV.BA]Life Sciences [q-bio]/Animal biology
Rehabilitation
Obstetrics and Gynecology
[SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology
[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism
medicine.disease
Flow Cytometry
Molecular biology
Sperm
Spermatozoa
Meiosis
Reproductive Medicine
Caspases
Sperm Motility
DNA fragmentation
Female
Zdroj: Human Reproduction
Human Reproduction, Oxford University Press (OUP), 2010, 25 (7), pp.1631-1642. ⟨10.1093/humrep/deq113⟩
ISSN: 0268-1161
1460-2350
DOI: 10.1093/humrep/deq113⟩
Popis: To better understand the infertility of patients with Robertsonian translocation, the biochemical and ultrastructural apoptotic characteristics of apoptosis in the sperm of patients and fertile donors were studied.Ejaculated sperm samples of seven Robertsonian translocation carriers and seven fertile donors were analyzed after cryopreservation. The proportion of both viable and dead spermatozoa expressing activated caspases was detected by flow cytometry through the use of different specific carboxyfluorescein-labeled caspase inhibitors. Sperm DNA fragmentation was evaluated by the TUNEL method. The percentages of intact spermatozoa or spermatozoa with ultrastructural features of apoptosis, immaturity or necrosis were estimated by electron microscopy. Meiotic segregation analysis was performed by FISH.Significantly lower concentration, forward motility and normal morphology of spermatozoa were found in ejaculated samples of the Robertsonian patients than fertile donors. Compared with the control group, in Robertsonian translocation carriers: (i) the caspase assays showed a significantly increased (P0.05) proportion of viable spermatozoa with activated poly-caspases (57.4 versus 25.8%), caspase-3 (43.5 versus 13.4%), caspase-8 (44.4 versus 17.1%) and caspase-9 (42.4 versus 10.0%); (ii) the rate of DNA fragmentation was higher (26.3 versus 12.8%); and (iii) sperm ultrastructural examination highlighted a higher percentage of immature (28.0 versus 10.0%) and apoptotic (24.5 versus 18.5%) spermatozoa. FISH study showed predominant normal/balanced spermatozoa (78.34-85.53%).These results show a predominant proportion of balanced and normal gametes and higher numbers of spermatozoa showing apoptosis and immaturity features in oligoasthenozoospermic Robertsonian translocation carriers than in fertile donors. This suggests defects in spermatogenesis and especially spermiogenesis of these infertile patients.
Databáze: OpenAIRE
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