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Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature

Sperm carries male genetic information, and flagella help move the sperm to reach oocytes. When the ultrastructure of the flagella is abnormal, the sperm is unable to reach the oocyte and achieve insemination. Multiple morphological abnormalities of sperm flagella (MMAF) is a relatively rare idiopat...

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Autores principales: Wang, Jiaxiong, Wang, Weizhuo, Shen, Liyan, Zheng, Aiyan, Meng, Qingxia, Li, Hong, Yang, Shenmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679630/
https://www.ncbi.nlm.nih.gov/pubmed/36425067
http://dx.doi.org/10.3389/fgene.2022.1034951
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author Wang, Jiaxiong
Wang, Weizhuo
Shen, Liyan
Zheng, Aiyan
Meng, Qingxia
Li, Hong
Yang, Shenmin
author_facet Wang, Jiaxiong
Wang, Weizhuo
Shen, Liyan
Zheng, Aiyan
Meng, Qingxia
Li, Hong
Yang, Shenmin
author_sort Wang, Jiaxiong
collection PubMed
description Sperm carries male genetic information, and flagella help move the sperm to reach oocytes. When the ultrastructure of the flagella is abnormal, the sperm is unable to reach the oocyte and achieve insemination. Multiple morphological abnormalities of sperm flagella (MMAF) is a relatively rare idiopathic condition that is mainly characterized by multiple defects in sperm flagella. In the last decade, with the development of high-throughput DNA sequencing approaches, many genes have been revealed to be related to MMAF. However, the differences in sperm phenotypes and reproductive outcomes in many cases are attributed to different pathogenic genes or different pathogenic mutations in the same gene. Here, we will review information about the various phenotypes resulting from different pathogenic genes, including sperm ultrastructure and encoding proteins with their location and functions as well as assisted reproductive technology (ART) outcomes. We will share our clinical detection and diagnosis experience to provide additional clinical views and broaden the understanding of this disease.
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spelling pubmed-96796302022-11-23 Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature Wang, Jiaxiong Wang, Weizhuo Shen, Liyan Zheng, Aiyan Meng, Qingxia Li, Hong Yang, Shenmin Front Genet Genetics Sperm carries male genetic information, and flagella help move the sperm to reach oocytes. When the ultrastructure of the flagella is abnormal, the sperm is unable to reach the oocyte and achieve insemination. Multiple morphological abnormalities of sperm flagella (MMAF) is a relatively rare idiopathic condition that is mainly characterized by multiple defects in sperm flagella. In the last decade, with the development of high-throughput DNA sequencing approaches, many genes have been revealed to be related to MMAF. However, the differences in sperm phenotypes and reproductive outcomes in many cases are attributed to different pathogenic genes or different pathogenic mutations in the same gene. Here, we will review information about the various phenotypes resulting from different pathogenic genes, including sperm ultrastructure and encoding proteins with their location and functions as well as assisted reproductive technology (ART) outcomes. We will share our clinical detection and diagnosis experience to provide additional clinical views and broaden the understanding of this disease. Frontiers Media S.A. 2022-11-08 /pmc/articles/PMC9679630/ /pubmed/36425067 http://dx.doi.org/10.3389/fgene.2022.1034951 Text en Copyright © 2022 Wang, Wang, Shen, Zheng, Meng, Li and Yang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Wang, Jiaxiong
Wang, Weizhuo
Shen, Liyan
Zheng, Aiyan
Meng, Qingxia
Li, Hong
Yang, Shenmin
Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature
title Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature
title_full Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature
title_fullStr Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature
title_full_unstemmed Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature
title_short Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature
title_sort clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: a review of literature
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679630/
https://www.ncbi.nlm.nih.gov/pubmed/36425067
http://dx.doi.org/10.3389/fgene.2022.1034951
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