References

agx

Андрология и генитальная хирургия

Andrology and Genital Surgery

2070-97812412-8902

10.17650/2070-9781-2023-24-4-25-36

agx-702

Research Article

ОБЗОРНАЯ СТАТЬЯ

REVIEW

Генетические и сперматологические аспекты синдрома ацефалических сперматозоидов

Genetic and spermatological aspects of acephalic sperm syndrome

https://orcid.org/0000-0002-0535-4081

Хаят

С. Ш.

Khayat

S. Sh.

115522 Москва, ул. Москворечье, 1

1 Moskvorechye St., Moscow 115522

https://orcid.org/0000-0002-8422-4962

Брагина

Е. Е.

Bragina

E. E.

115522 Москва, ул. Москворечье, 1

119992 Москва, Ленинские горы, 1, стр. 40

1 Moskvorechye St., Moscow 115522

Bld. 40, 1 Leninskye gory, Moscow 119992

https://orcid.org/0000-0003-3603-4838

Курило

Л. Ф.

Kurilo

L. F.

115522 Москва, ул. Москворечье, 1

1 Moskvorechye St., Moscow 115522

https://orcid.org/0000-0002-7615-8512

Черных

В. Б.

Chernykh

V. B.

Вячеслав Борисович Черных

115522 Москва, ул. Москворечье, 1

Vyacheslav Borisovich Chernykh

1 Moskvorechye St., Moscow 115522

chernykh@med-gen.ru

ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation

ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»; Научно-исследовательский институт физико-химической биологии им. А.Н. Белозерского Московского государственного университета им. М.В. ЛомоносоваРоссияResearch Centre for Medical Genetics; A.N. Belozersky Research Institute of Physico-Chemical Biology, Lomonosov Moscow State UniversityRussian Federation

2023

28112023

2442536

2023

Хаят С.Ш., Брагина Е.Е., Курило Л.Ф., Черных В.Б.

Khayat S.S., Bragina E.E., Kurilo L.F., Chernykh V.B.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://agx.elpub.ru/jour/article/view/702

Синдром ацефалических сперматозоидов является генетически обусловленной формой первичного мужского бесплодия, связанного с тератозооспермией вследствие нарушенного аппарата сопряжения головка–жгутик, и характеризуется наличием в эякуляте сперматозоидов без головки (ацефалических). Морфологические изменения сперматозоида при данном синдроме описаны у человека, однако этиология и патогенез синдрома недостаточно изучены. В последние годы благодаря прогрессу в технологии секвенирования и развитию высокотехнологичных методов исследования генома, протеома и других омиксных технологий стало возможным выявление множества генетических причин нарушений сперматогенеза и развития мужского бесплодия, а также лучшее понимание их механизмов. В статье представлен краткий обзор генов, связанных с синдромом ацефалических сперматозоидов.

Acephalic sperm syndrome is a genetically determined form of primary male infertility associated with teratozoospermia due to a disrupted head-tail coupling apparatus. Acephalic spermatozoa syndrome is characterized by high proportion of headless (acephalic) spermatozoa in the ejaculate. Sperm morphological changes in this syndrome were characterized, however, the etiology and pathogenesis of this syndrome have not been under evaluated. In recent years, with the progress in sequencing technology and other high-performance methods of genome, proteome and other omics technologies, it has become possible to identify many genetic causes of disorders of spermatogenesis and male infertility, as well as a better understanding of their mechanisms. This article provides a brief overview of the genes associated with acephalic sperm syndrome.

мужское бесплодиегенные вариантытератозооспермиясиндром ацефалических сперматозоидовмужские половые клетки

male infertilitygene variantsteratozoospermiaacephalic spermatozoa syndromemale germ cells

Работа выполнена в рамках государственного задания Министерства науки и высшего образования Российской Федерации для ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова». Ультраструктурные исследования выполнялись в рамках программы развития Московского государственного университета (PNR 5.13).

The study was carried out within the framework of the state task of the Ministry of Science and Higher Education of the Russian Federation for Research Centre for Medical Genetics. Ultrastructural studies were carried out within the framework of the Moscow State University Development Program (PNR 5.13).

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The authors declare that there are no conflicts of interest present.