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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...

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Autores principales: Sha, Yanwei, Liu, Wensheng, Nie, Hua, Han, Lu, Ma, Chunjie, Zhang, Xiaoya, Xiao, Ziyi, Qin, Weibing, Jiang, Xiaoming, Wei, Xiaoli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
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.
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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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