Atypical structure of the nuclear membrane, distribution of nuclear pores and lamin B1 in spermatozoa of patients with complete and partial globozoospermia.

DPY19L2 acrosome globozoospermia lamins male infertility nuclear pores spermatozoa teratozoospermia

Journal

Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621

Informations de publication

Date de publication:
2024
Historique:
received: 04 05 2024
accepted: 13 06 2024
medline: 24 7 2024
pubmed: 24 7 2024
entrez: 24 7 2024
Statut: epublish

Résumé

Globozoospermia is a form of male infertility characterized by spermatozoa with spherical heads lacking acrosomes. The aim of this study was to evaluate ultrastructural and molecular defects in different types of globozoospermia. Semen samples from 12 infertile patients (9 with complete globozoospermia and 3 with partial globozoospermia) and 10 normozoospermic men (control) were examined by transmission electron microscopy and immunocytochemistry with antibodies against lamin B1. The presence of lamin A and progerin was assessed by reverse transcription-PCR. Whole exome sequencing was performed in three patients. In semen samples with complete and partial globozoospermia, lamin B1 was observed at the periphery of sperm nuclei, whereas lamin A and progerin were absent. Nuclear envelope pores were found in spermatozoa from both patient groups, regardless of morphology and chromatin condensation, in contrast to the control group. Non-condensed chromatin was present in 51%-81% of cases of complete globozoospermia and in 36%-79% of cases of partial globozoospermia. Homozygous

Identifiants

pubmed: 39045326
doi: 10.3389/fgene.2024.1427838
pii: 1427838
pmc: PMC11263118
doi:

Types de publication

Journal Article

Langues

eng

Pagination

1427838

Informations de copyright

Copyright © 2024 Bragina, Kurchashova, Suhomlinova, Gasanova, Ermolaeva, Sorokina, Kirs, Arifulin, Solovova, Ryzhkova, Khayat, Andreeva and Chernykh.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Auteurs

Elizaveta Bragina (E)

Belozersky Institute of Physico-Chemical Biology Lomonosov Moscow State University (MSU), Moscow, Russia.
Research Centre for Medical Genetics (RCMG), Moscow, Russia.

Svetlana Kurchashova (S)

Belozersky Institute of Physico-Chemical Biology Lomonosov Moscow State University (MSU), Moscow, Russia.

Marina Suhomlinova (M)

Belozersky Institute of Physico-Chemical Biology Lomonosov Moscow State University (MSU), Moscow, Russia.

Tatiana Gasanova (T)

Faculty of Biology, Lomonosov Moscow State University (MSU), Moscow, Russia.

Svetlana Ermolaeva (S)

Research Centre for Medical Genetics (RCMG), Moscow, Russia.

Tatyana Sorokina (T)

Research Centre for Medical Genetics (RCMG), Moscow, Russia.

Eva Kirs (E)

Novosibirsk Center for Reproductive Medicine, Novosibirsk, Russia.

Evgeniy Arifulin (E)

Belozersky Institute of Physico-Chemical Biology Lomonosov Moscow State University (MSU), Moscow, Russia.

Olga Solovova (O)

Research Centre for Medical Genetics (RCMG), Moscow, Russia.

Oxana Ryzhkova (O)

Research Centre for Medical Genetics (RCMG), Moscow, Russia.

Sabina Khayat (S)

Research Centre for Medical Genetics (RCMG), Moscow, Russia.

Marina Andreeva (M)

Research Centre for Medical Genetics (RCMG), Moscow, Russia.

Vyacheslav Chernykh (V)

Research Centre for Medical Genetics (RCMG), Moscow, Russia.
Pirogov Russian National Research Medical University of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.

Classifications MeSH