Male infertility in Sertoli cell‐only syndrome: An investigation of autosomal gene defects

2018 ◽  
Vol 26 (2) ◽  
pp. 292-298 ◽  
Author(s):  
Gulsah Koc ◽  
Abdullah A Ozdemir ◽  
Gozde Girgin ◽  
Cem Akbal ◽  
Deniz Kirac ◽  
...  
Keyword(s):  
Male Infertility ◽  
Sertoli Cell ◽  
Autosomal Gene ◽  
Gene Defects

scholarly journals Environmentally Induced Epigenetic Transgenerational Inheritance of Altered Sertoli Cell Transcriptome and Epigenome: Molecular Etiology of Male Infertility

PLoS ONE ◽  
2013 ◽  
Vol 8 (3) ◽  
pp. e59922 ◽  
Author(s):  
Carlos Guerrero-Bosagna ◽  
Marina Savenkova ◽  
Md. Muksitul Haque ◽  
Eric Nilsson ◽  
Michael K. Skinner
Keyword(s):  
Male Infertility ◽  
Sertoli Cell ◽  
Transgenerational Inheritance ◽  
Molecular Etiology ◽  
Cell Transcriptome

scholarly journals Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

2020 ◽  
Vol 57 (10) ◽  
pp. 708-716 ◽  
Author(s):  
Guillaume Martinez ◽  
Julie Beurois ◽  
Denis Dacheux ◽  
Caroline Cazin ◽  
Marie Bidart ◽  
...  
Keyword(s):  
Male Infertility ◽  
Sperm Cells ◽  
Gene Encoding ◽  
Infertile Men ◽  
Transmission Electron ◽  
Complex Protein ◽  
Radial Spokes ◽  
Gene Defects ◽  
Primary Male ◽  
And Function

BackgroundMultiple morphological abnormalities of the flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility defined as asthenozoospermia. Despite numerous genes recently described to be recurrently associated with MMAF, more than half of the cases analysed remain unresolved, suggesting that many yet uncharacterised gene defects account for this phenotypeMethodsExome sequencing was performed on 167 infertile men with an MMAF phenotype. Immunostaining and transmission electron microscopy (TEM) in sperm cells from affected individuals were performed to characterise the ultrastructural sperm defects. Gene inactivation using RNA interference (RNAi) was subsequently performed in Trypanosoma.ResultsWe identified six unrelated affected patients carrying a homozygous deleterious variants in MAATS1, a gene encoding CFAP91, a calmodulin-associated and spoke-associated complex (CSC) protein. TEM and immunostaining experiments in sperm cells showed severe central pair complex (CPC) and radial spokes defects. Moreover, we confirmed that the WDR66 protein is a physical and functional partner of CFAP91 into the CSC. Study of Trypanosoma MAATS1’s orthologue (TbCFAP91) highlighted high sequence and structural analogies with the human protein and confirmed the axonemal localisation of the protein. Knockdown of TbCFAP91 using RNAi impaired flagellar movement led to CPC defects in Trypanosoma as observed in humans.ConclusionsWe showed that CFAP91 is essential for normal sperm flagellum structure and function in human and Trypanosoma and that biallelic variants in this gene lead to severe flagellum malformations resulting in astheno-teratozoospermia and primary male infertility.

scholarly journals Disorders of Puberty: Endocrinology of the Pre-Pubertal Testis

2020 ◽  
Vol 9 (3) ◽  
pp. 780 ◽  
Author(s):  
Sandro La Vignera ◽  
Rossella Cannarella ◽  
Rosita A. Condorelli ◽  
Aldo E. Calogero
Keyword(s):  
Male Infertility ◽  
Sertoli Cell ◽  
Sperm Count ◽  
Sperm Concentration ◽  
Practical Approach ◽  
Testicular Function ◽  
Special Issue ◽  
Western Countries ◽  
Meta Regression

Male infertility is a widespread condition among western countries. Meta-regression data show that sperm concentration and total sperm count have halved in the last decades. The reasons of this decline are still unclear. The evaluation of testicular function in pre-pubertal children may be effective in the timely detection of Sertoli cell (SC) disfunction, which anticipates the diagnosis of male infertility. The aim of this Special Issue is to gather together in vitro evidence on SC physiology, causes of SC dysfunction, and to suggest a practical approach to be adopted in children.

Male infertility and gene defects

2010 ◽  
Vol 32 (5) ◽  
pp. 411-422
Author(s):  
Jian RUAN ◽  
Wei-Dong DU
Keyword(s):  
Male Infertility ◽  
Gene Defects

scholarly journals Epigenetic transgenerational inheritance of testis pathology and Sertoli cell epimutations: generational origins of male infertility

2019 ◽  
Vol 5 (3) ◽  
Author(s):  
Ingrid Sadler-Riggleman ◽  
Rachel Klukovich ◽  
Eric Nilsson ◽  
Daniel Beck ◽  
Yeming Xie ◽  
...  
Keyword(s):  
Male Infertility ◽  
Sertoli Cell ◽  
Sertoli Cells ◽  
Noncoding Rna ◽  
Cell Function ◽  
Sperm Concentration ◽  
Environmental Toxicants ◽  
Transgenerational Inheritance ◽  
Disease Etiology ◽  
General Decline

Abstract Male reproductive health has been in decline for decades with dropping sperm counts and increasing infertility, which has created a significant societal and economic burden. Between the 1970s and now, a general decline of over 50% in sperm concentration has been observed in the population. Environmental toxicant-induced epigenetic transgenerational inheritance has been shown to affect testis pathology and sperm count. Sertoli cells have an essential role in spermatogenesis by providing physical and nutritional support for developing germ cells. The current study was designed to further investigate the transgenerational epigenetic changes in the rat Sertoli cell epigenome and transcriptome that are associated with the onset of testis disease. Gestating female F0 generation rats were transiently exposed during the period of fetal gonadal sex determination to the environmental toxicants, such as dichlorodiphenyltrichloroethane (DDT) or vinclozolin. The F1 generation offspring were bred (i.e. intercross within the lineage) to produce the F2 generation grand-offspring that were then bred to produce the transgenerational F3 generation (i.e. great-grand-offspring) with no sibling or cousin breeding used. The focus of the current study was to investigate the transgenerational testis disease etiology, so F3 generation rats were utilized. The DNA and RNA were obtained from purified Sertoli cells isolated from postnatal 20-day-old male testis of F3 generation rats. Transgenerational alterations in DNA methylation, noncoding RNA, and gene expression were observed in the Sertoli cells from vinclozolin and DDT lineages when compared to the control (vehicle exposed) lineage. Genes associated with abnormal Sertoli cell function and testis pathology were identified, and the transgenerational impacts of vinclozolin and DDT were determined. Alterations in critical gene pathways, such as the pyruvate metabolism pathway, were identified. Observations suggest that ancestral exposures to environmental toxicants promote the epigenetic transgenerational inheritance of Sertoli cell epigenetic and transcriptome alterations that associate with testis abnormalities. These epigenetic alterations appear to be critical factors in the developmental and generational origins of testis pathologies and male infertility.

scholarly journals Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Katrien Stouffs ◽  
Alexander Gheldof ◽  
Herman Tournaye ◽  
Deborah Vandermaelen ◽  
Maryse Bonduelle ◽  
...  
Keyword(s):  
Male Infertility ◽  
Sertoli Cell ◽  
Germ Cells ◽  
Copy Number ◽  
Array Comparative Genomic Hybridization ◽  
Klinefelter Syndrome ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Special Focus ◽  
Unselected Group

Sertoli cell-only syndrome is defined by the complete absence of germ cells in testicular tissues and always results in male infertility. The aetiology often remains unknown. In this paper, we have investigated possible causes of Sertoli cell-only syndrome with a special focus on genetic causes. Our results show that, for a large part of the patients (>23% in an unselected group), the sex chromosomes are involved. The majority of patients had a Klinefelter syndrome, followed by patients with Yq microdeletions. Array comparative genomic hybridization in a selected group of “idiopathic patients” showed no known infertility related copy number variations.

scholarly journals Novel Bi-Allelic Variants of FANCM Cause Sertoli Cell-Only Syndrome and Non-Obstructive Azoospermia

2021 ◽  
Vol 12 ◽  
Author(s):  
Yuxiang Zhang ◽  
Peng Li ◽  
Nachuan Liu ◽  
Tao Jing ◽  
Zhiyong Ji ◽  
...  
Keyword(s):  
Male Infertility ◽  
Sertoli Cell ◽  
Severe Disease ◽  
Sporadic Case ◽  
Compound Heterozygous ◽  
Obstructive Azoospermia ◽  
Core Complex ◽  
Allelic Variants ◽  
Interstrand Crosslink ◽  
Compound Heterozygous Variants

Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for the majority of NOA remain unknown. FANCM is a member of Fanconi Anemia (FA) core complex, whose defects are associated with cell hypersensitivity to DNA interstrand crosslink (ICL)-inducing agents. It was reported that variants in FANCM (MIM: 609644) might cause azoospermia or oligospermia. However, there is still a lack of evidence to explain the association between different FANCM variants and male infertility phenotypes. Herein, we identified compound heterozygous variants in FANCM in two NOA-affected brothers (c. 1778delG:p. R593Qfs*76 and c. 1663G > T:p. V555F), and a homozygous variant in FANCM (c. 1972C > T:p. R658X) in a sporadic case with NOA, respectively. H&E staining and immunohistochemistry showed Sertoli cell-only Syndrome (SCOS) in the three patients with NOA. Collectively, our study expands the knowledge of variants in FANCM, and provides a new insight to understand the genetic etiology of NOA.

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