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Homozygous mutation in DNALI1 leads to asthenoteratozoospermia by affecting the inner dynein arms
Asthenozoospermia is the most common cause of male infertility. Dynein protein arms play a crucial role in the motility of sperm flagella and defects in these proteins generally impair the axoneme structure and affect sperm flagella function. In this study, we performed whole exome sequencing for a...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885801/ https://www.ncbi.nlm.nih.gov/pubmed/36726469 http://dx.doi.org/10.3389/fendo.2022.1058651 |
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author | Sha, Yanwei Liu, Wensheng Nie, Hua Han, Lu Ma, Chunjie Zhang, Xiaoya Xiao, Ziyi Qin, Weibing Jiang, Xiaoming Wei, Xiaoli |
author_facet | Sha, Yanwei Liu, Wensheng Nie, Hua Han, Lu Ma, Chunjie Zhang, Xiaoya Xiao, Ziyi Qin, Weibing Jiang, Xiaoming Wei, Xiaoli |
author_sort | Sha, Yanwei |
collection | PubMed |
description | Asthenozoospermia is the most common cause of male infertility. Dynein protein arms play a crucial role in the motility of sperm flagella and defects in these proteins generally impair the axoneme structure and affect sperm flagella function. In this study, we performed whole exome sequencing for a cohort of 126 infertile patients with asthenozoospermia and identified homozygous DNALI1 mutation in one patient from a consanguineous family. This identified homozygous mutation was verified by Sanger sequencing. In silico analysis showed that this homozygous mutation is very rare, highly pathogenic, and very conserved. Sperm routine analysis confirmed that the motility of the spermatozoa from the patient significantly decreased. Further sperm morphology analysis showed that the spermatozoa from the patient exhibited multiple flagella morphological defects and a specific loss in the inner dynein arms. Fortunately, the patient was able to have his child via intracytoplasmic sperm injection treatment. Our study is the first to demonstrate that homozygous DNALI1 mutation may impair the integration of axoneme structure, affect sperm motility and cause asthenoteratozoospermia in human beings. |
format | Online Article Text |
id | pubmed-9885801 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-98858012023-01-31 Homozygous mutation in DNALI1 leads to asthenoteratozoospermia by affecting the inner dynein arms Sha, Yanwei Liu, Wensheng Nie, Hua Han, Lu Ma, Chunjie Zhang, Xiaoya Xiao, Ziyi Qin, Weibing Jiang, Xiaoming Wei, Xiaoli Front Endocrinol (Lausanne) Endocrinology Asthenozoospermia is the most common cause of male infertility. Dynein protein arms play a crucial role in the motility of sperm flagella and defects in these proteins generally impair the axoneme structure and affect sperm flagella function. In this study, we performed whole exome sequencing for a cohort of 126 infertile patients with asthenozoospermia and identified homozygous DNALI1 mutation in one patient from a consanguineous family. This identified homozygous mutation was verified by Sanger sequencing. In silico analysis showed that this homozygous mutation is very rare, highly pathogenic, and very conserved. Sperm routine analysis confirmed that the motility of the spermatozoa from the patient significantly decreased. Further sperm morphology analysis showed that the spermatozoa from the patient exhibited multiple flagella morphological defects and a specific loss in the inner dynein arms. Fortunately, the patient was able to have his child via intracytoplasmic sperm injection treatment. Our study is the first to demonstrate that homozygous DNALI1 mutation may impair the integration of axoneme structure, affect sperm motility and cause asthenoteratozoospermia in human beings. Frontiers Media S.A. 2023-01-16 /pmc/articles/PMC9885801/ /pubmed/36726469 http://dx.doi.org/10.3389/fendo.2022.1058651 Text en Copyright © 2023 Sha, Liu, Nie, Han, Ma, Zhang, Xiao, Qin, Jiang and Wei 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 | Endocrinology Sha, Yanwei Liu, Wensheng Nie, Hua Han, Lu Ma, Chunjie Zhang, Xiaoya Xiao, Ziyi Qin, Weibing Jiang, Xiaoming Wei, Xiaoli Homozygous mutation in DNALI1 leads to asthenoteratozoospermia by affecting the inner dynein arms |
title | Homozygous mutation in DNALI1 leads to asthenoteratozoospermia by affecting the inner dynein arms |
title_full | Homozygous mutation in DNALI1 leads to asthenoteratozoospermia by affecting the inner dynein arms |
title_fullStr | Homozygous mutation in DNALI1 leads to asthenoteratozoospermia by affecting the inner dynein arms |
title_full_unstemmed | Homozygous mutation in DNALI1 leads to asthenoteratozoospermia by affecting the inner dynein arms |
title_short | Homozygous mutation in DNALI1 leads to asthenoteratozoospermia by affecting the inner dynein arms |
title_sort | homozygous mutation in dnali1 leads to asthenoteratozoospermia by affecting the inner dynein arms |
topic | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885801/ https://www.ncbi.nlm.nih.gov/pubmed/36726469 http://dx.doi.org/10.3389/fendo.2022.1058651 |
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