Article
Biochemistry & Molecular Biology
Hua-ying Hu, Tian-ying Wei, Zhan-ke Feng, Song-jun Li, Rong Zhao, Xiao-ling Yi, Ti-ling Hu, Huan Zhao, Cun-xi Li, Zu-guo Liu
Summary: This study revealed the association between defects in sperm flagella and genetic variations in a male infertility patient. Morphological studies of the patient's sperm showed multiple anomalies, and genetic testing identified novel biallelic variations related to the DNAH1 gene.
DNA AND CELL BIOLOGY
(2021)
Article
Cell Biology
Ao Ma, Aurang Zeb, Imtiaz Ali, Daren Zhao, Asad Khan, Beibei Zhang, Jianteng Zhou, Ranjha Khan, Huan Zhang, Yuanwei Zhang, Ihsan Khan, Wasim Shah, Haider Ali, Abdul Rafay Javed, Hui Ma, Qinghua Shi
Summary: In this study, homozygous variants in CFAP61 were found to be associated with Multiple morphological abnormalities of the flagella (MMAF) and male infertility. The study revealed severe disorganization of axonemal ultrastructures in spermatozoa from patients, along with the absence of certain key components. These findings emphasize the essential role of the CFAP61 gene in normal sperm flagellum structure in humans.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Andrology
Agnieszka Malcher, Tomasz Stokowy, Andrea Berman, Marta Olszewska, Piotr Jedrzejczak, Dawid Sielski, Adam Nowakowski, Natalia Rozwadowska, Alexander N. Yatsenko, Maciej K. Kurpisz
Summary: In this study, low-frequency single nucleotide variants (SNVs) associated with spermatogenetic failure in patients with nonobstructive azoospermia (NOA) were identified using whole-genome sequencing (WGS). Novel potential candidate NOA-associated genes were found, and the WGS analysis successfully revealed NOA-associated gene findings in patients who did not have potentially causative variants detected through whole-exome sequencing (WES) analysis.
Article
Andrology
Chuan Jiang, Xueguang Zhang, Heng Zhang, Junliang Guo, Chaoliang Zhang, Jinhong Li, Yihong Yang
Summary: The study found that the DNAH1 gene is associated with the formation of sperm flagella, and defects in DNAH1 mutations can impair sperm motility, leading to male infertility.
TRANSLATIONAL ANDROLOGY AND UROLOGY
(2021)
Article
Andrology
Matthew Hoi Kin Chau, Ying Li, Peng Dai, Mengmeng Shi, Xiaofan Zhu, Jacqueline Pui Wah Chung, Yvonne K. Kwok, Kwong Wai Choy, Xiangdong Kong, Zirui Dong
Summary: The study investigated apparently balanced interchromosomal structural rearrangements in patients with male infertility, identifying cryptic structural rearrangements and copy number variants. Furthermore, point mutations causative of male infertility were investigated using high read-depth genome sequencing. The results showed that these structural rearrangements may cause gene truncations, disruption of topological-associated domains, and abnormalities in genes related to male germ cell development, apoptosis, and spermatogenesis. The study provided insights into the molecular characteristics and potential mechanisms underlying male infertility.
ASIAN JOURNAL OF ANDROLOGY
(2022)
Article
Obstetrics & Gynecology
Kim Joana Westerich, Solveig Reinecke, Jana Emich, Margot Julia Wyrwoll, Birgit Stallmeyer, Matthias Meyer, Manon S. Oud, Daniela Fietz, Adrian Pilatz, Sabine Kliesch, Michal Reichman-Fried, Katsiaryna Tarbashevich, Tamara Limon, Martin Stehling, Corinna Friedrich, Frank Tuettelmann, Erez Raz
Summary: Combining patient genetic data with functional in vivo assays in zebrafish reveals a possible role for DND1 in human male fertility.
HUMAN REPRODUCTION
(2023)
Article
Biochemistry & Molecular Biology
Guillaume Martinez, Anne-Laure Barbotin, Caroline Cazin, Zeina Wehbe, Angele Boursier, Amir Amiri-Yekta, Abbas Daneshipour, Seyedeh-Hanieh Hosseini, Nathalie Rives, Aurelie Feraille, Nicolas Thierry-Mieg, Marie Bidart, Veronique Satre, Christophe Arnoult, Pierre F. Ray, Zine-Eddine Kherraf, Charles Coutton
Summary: In this study, whole-exome sequencing was used to analyze 167 patients with multiple morphological abnormalities of the sperm flagellum (MMAF). Three unrelated patients were found to have new pathogenic mutations in the DNHD1 gene, which was recently associated with MMAF. Experimental evidence confirmed the deleterious effect of DNHD1 mutations on the structure and function of the sperm flagellum. This study definitively consolidated the involvement of DNHD1 in the MMAF phenotype and expanded the mutational spectrum of the DNHD1 gene.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Madalina Gabriela Barbu, Dana Claudia Thompson, Nicolae Suciu, Silviu Cristian Voinea, Dragos Cretoiu, Dragos Valentin Predescu
Summary: MicroRNAs play a significant role in male infertility, with their concentration in semen being linked to specific reproductive dysfunctions. Aberrant expression of certain microRNAs has been associated with male reproductive disorders. Additionally, idiopathic male infertility is connected to single nucleotide polymorphisms in microRNA binding sites.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Wei-Hui Shi, Zhi-Yang Zhou, Mu-Jin Ye, Ning-Xin Qin, Zi-Ru Jiang, Xuan-You Zhou, Nai-Xin Xu, Xian-Lin Cao, Song-Chang Chen, He-Feng Huang, Chen-Ming Xu
Summary: This study found that sperm morphological defects in males with autosomal dominant polycystic kidney disease (ADPKD) are associated with disruption of the PC1 protein and dysregulated Hippo signaling. The sperm tails of ADPKD patients showed coiled flagella, absent central microtubules, and irregular peripheral doublets. In addition, the length of sperm flagella was shorter in patients compared to controls. Further experiments revealed that Pkd1 depletion impaired ciliogenesis and resulted in decreased levels of MST1 and LATS1, leading to nuclear accumulation of YAP/TAZ and increased transcription of Aurka, potentially promoting HDAC6-mediated ciliary disassembly.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Developmental Biology
Brendan J. Houston, Alexandra M. Lopes, Maris Laan, Liina Nagirnaja, Anne E. O'Connor, D. Jo Merriner, Joseph Nguyen, Margus Punab, Antoni Riera-Escamilla, Csilla Krausz, Kenneth Ivan Aston, Donald F. Conrad, Moira K. O'Bryan
Summary: This study found that one of the genes associated with male infertility, DCAF12L1, does not have a significant impact on fertility in mice. This disparity may be due to differences in DCAF12 family members between mice and humans, or the presence of environmental factors in humans.
DEVELOPMENTAL BIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Maria-Anna Kyrgiafini, Zissis Mamuris
Summary: This systematic review investigates the differential expression of circRNAs in male infertility and their potential as candidate biomarkers. It was found that many circRNAs are deregulated in male infertility and their interactions with miRNAs play a crucial role in cellular processes and pathways. CircRNAs could also be used as biomarkers for screening patients before sperm retrieval, but there is a knowledge gap regarding their role in other subtypes of male infertility.
Review
Genetics & Heredity
Wen Yu, Miao An, Yang Xu, Qingqiang Gao, Mujun Lu, Yingying Li, Li Zhang, Hongxiang Wang, Zhipeng Xu
Summary: Mutations in DNAH1 are the main causative factors in Chinese patients with MMAF, with hotspot mutations identified and suggested to have an association with specific sub-phenotypes of the condition.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Medicine, Research & Experimental
Ao Ma, Jianteng Zhou, Haider Ali, Tanveer Abbas, Imtiaz Ali, Zubair Muhammad, Sobia Dil, Jing Chen, Xiongheng Huang, Hui Ma, Daren Zhao, Beibei Zhang, Yuanwei Zhang, Wasim Shah, Basit Shah, Ghulam Murtaza, Furhan Iqbal, Muzammil Ahmad Khan, Asad Khan, Qing Li, Bo Xu, Limin Wu, Huan Zhang, Qinghua Shi
Summary: This study identified two mutations in the CFAP57 gene associated with MMAF, and further research revealed that these mutations disrupted the assembly of inner dynein arms in sperm flagella, leading to male infertility.
Review
Genetics & Heredity
Aminata Toure, Guillaume Martinez, Zine-Eddine Kherraf, Caroline Cazin, Julie Beurois, Christophe Arnoult, Pierre F. Ray, Charles Coutton
Summary: Spermatozoa require a specialized structure like the flagellum for successful fertilization. Defects in the flagellum, such as MMAF, can lead to male infertility by affecting sperm motility, and recent studies have identified genetic factors contributing to this condition.
Article
Endocrinology & Metabolism
Vincenza Precone, Rossella Cannarella, Stefano Paolacci, Gian Maria Busetto, Tommaso Beccari, Liborio Stuppia, Gerolamo Tonini, Alessandra Zulian, Giuseppe Marceddu, Aldo E. Calogero, Matteo Bertelli
Summary: This study utilized a next-generation sequencing gene panel to identify potential gene variants in idiopathic male infertile patients. The findings suggest that searching for pre-diagnostic genes may help in pinpointing the cause of idiopathic male infertility.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Genevieve Jolivet, Nathalie Daniel-Carlier, Erwana Harscoet, Eloise Airaud, Aurelie Dewaele, Cloe Pierson, Frank Giton, Laurent Boulanger, Nathalie Daniel, Beatrice Mandon-Pepin, Maelle Pannetier, Eric Pailhoux
Summary: This study demonstrates the essential role of estradiol in the formation of the ovarian reserve and the proliferation and differentiation of somatic and germ cells during female rabbit embryonic gonad development.
Article
Genetics & Heredity
Marion Lesieur-Sebellin, Marianne Till, Philippe Khau Van Kien, Berenice Herve, Nicolas Bourgon, Celine Dupont, Anne-Claude Tabet, Mathilde Barrois, Aurelie Coussement, Laurence Loeuillet, Eve Mousty, Vuthy Ea, Amal El Assal, Laura Mary, Sylvie Jaillard, Claire Beneteau, Claudine Le Vaillant, Charles Coutton, Francoise Devillard, Carole Goumy, Amelie Delabaere, Sylvia Redon, Yves Laurent, Audrey Lamouroux, Jerome Massardier, Catherine Turleau, Damien Sanlaville, Vincent Cantagrel, Pascale Sonigo, Francois Vialard, Laurent J. Salomon, Valerie Malan
Summary: Terminal 6q deletion is a rare genetic condition associated with neurodevelopmental disorders and intellectual disabilities. This study collected ultrasound findings from 22 fetuses with pure 6qter deletion and compared them with previous cases and patients with DLL1 pathogenic variants. The results showed common brain structural abnormalities in all fetuses, highlighting the importance of prenatal sonographic anomalies and chromosomal microarray analysis in diagnosing this syndrome.
PRENATAL DIAGNOSIS
(2022)
Article
Developmental Biology
Richard G. Lea, Beatrice Mandon-Pepin, Benoit Loup, Elodie Poumerol, Luc Jouneau, Biola F. Egbowon, Adelle Bowden, Corinne Cotinot, Laura Purdie, Zulin Zhang, Paul A. Fowler, Kevin D. Sinclair
Summary: Exposure of fetal testis to environmental chemicals can lead to impaired development and reduced adult reproductive competence. This study investigated the effects of exposing pregnant ewes to a mixture of chemicals derived from biosolids fertiliser. The results showed that continuous exposure resulted in reduced testis development, while exposure during specific periods of pregnancy had more severe consequences. These findings suggest that early gestational exposure may have long-lasting effects on testicular function and fertility in adulthood.
Article
Medicine, General & Internal
Loren Mear, Emmanuelle Com, Khadija Fathallah, Laetitia Guillot, Regis Lavigne, Blandine Guevel, Arnaud Fauconnier, Francois Vialard, Charles Pineau
Summary: Endometriosis is a common chronic gynaecological disease that can lead to infertility and chronic pain. By comparing proteins in the eutopic endometrium of women with and without endometriosis, potential biomarker candidates were identified, offering new insights into the mechanisms of the disease. Further confirmation on a larger sample cohort is needed to validate these findings.
Review
Surgery
Angeline Favre-Inhofer, Marie Carbonnel, Johanna Domert, Nathalie Cornet, Sylvie Chastant, Raphael Coscas, Francois Vialard, Valerie Gelin, Laurent Galio, Christophe Richard, Hela Trabelsi, Olivier Sandra, Dominique de Ziegler, Pascale Chavatte-Palmer, Jean-Marc Ayoubi
Summary: This review summarizes the research preparation conducted in animals before beginning UTx in humans. It discusses the advantages and limits of animal models, their role in surgical training, and their contribution to improving the success rates of UTx in humans. Animal models have played a crucial role in the implementation of UTx and are still necessary for research purposes.
FRONTIERS IN SURGERY
(2022)
Article
Obstetrics & Gynecology
F. Ghieh, A. L. Barbotin, N. Swierkowski-Blanchard, C. Leroy, J. Fortemps, C. Gerault, C. Hue, H. Mambu Mambueni, S. Jaillard, M. Albert, M. Bailly, V Izard, D. Molina-Gomes, F. Marcelli, J. Prasivoravong, V Serazin, M. N. Dieudonne, M. Delcroix, H. J. Garchon, A. Louboutin, B. Mandon-Pepin, S. Ferlicot, F. Vialard
Summary: Whole-exome sequencing in combination with testicular sperm extraction may provide additional information and predict the outcome of recurrent TESE in men with maturation arrest. The study suggests that WES screening could help avoid recurrent TESE in men with maturation arrest, particularly in individuals with consanguineous background.
HUMAN REPRODUCTION
(2022)
Article
Reproductive Biology
Benoit Loup, Elodie Poumerol, Luc Jouneau, Paul A. Fowler, Corinne Cotinot, Beatrice Mandon-Pepin
Summary: This study investigated the effects of bisphenol A (BPA) on meiosis in the fetal sheep ovary. The researchers found that BPA exposure disrupted meiotic initiation and completion, and induced transcriptomic modifications in the exposed explants. Gene ontology analysis revealed that pathways involved in cell-cycle phase transition, meiosis, and spindle assembly were mainly affected. This study provides a novel model for studying the molecular pathways of environmental toxicants on early female gametogenesis and offers new insights into the mechanisms by which BPA affects meiosis I.
REPRODUCTIVE TOXICOLOGY
(2022)
Article
Andrology
Farah Ghieh, Vincent Izard, Marine Poulain, Johanne Fortemps, Nadia Kazdar, Beatrice Mandon-Pepin, Sophie Ferlicot, Jean Marc Ayoubi, Francois Vialard
Summary: A harmful mutation in the RBMXL2 gene was identified in a male infertility patient, which may disrupt gene expression during spermatogenesis and lead to male infertility and meiotic arrest.
Article
Medicine, General & Internal
Claire Le Gal, Marie Carbonnel, Vincent Balaya, Christophe Richard, Valerie Gelin, Laurent Galio, Olivier Sandra, Barbara Hersant, Romain Bosc, Johanna Charton, Pascale Chavatte-Palmer, Francois Vialard, Raphael Coscas, Jean-Marc Ayoubi
Summary: Uterine transplantation is a realistic therapy for uterine infertility, and surgical training on animal models is necessary for human programs. This study analyzed predictive factors for successful vascular anastomoses and found that warm ischemia time, absence of complications, and experience of the surgeon were associated with successful vein anastomoses.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Reproductive Biology
Ophelie Teteau, Anais Vitorino Carvalho, Pascal Papillier, Beatrice Mandon-Pepin, Luc Jouneau, Peggy Jarrier-Gaillard, Alice Desmarchais, Marie-Emilie Lebachelier de la Riviere, Claire Vignault, Virginie Maillard, Aurelien Binet, Svetlana Uzbekova, Sebastien Elis
Summary: This study analyzed the effects of BPA and BPS on steroidogenesis in ovine granulosa cells in vitro and compared the effects of GPER agonist and antagonist. The results showed that both BPA and BPS affected progesterone secretion, while only BPS affected estradiol secretion. RNA-seq analysis revealed that BPA mainly disrupted the expression of genes involved in metabolism and transcription, while BPS mainly impaired cellular communication. These findings are important for further investigations on the temporal changes of these genes and the biological processes involved.
JOURNAL OF OVARIAN RESEARCH
(2023)
Article
Genetics & Heredity
Arthur Clement, Theo Dominot, Jeremy Chammas, Martine Montagnon, Marie Delcroix, Jerome Pfeffer, Jean Michel Dupont, Aziza Lebbar, Patrice Clement, Francois Vialard
Summary: Infertility affects approximately 15% of couples of childbearing age, with half of these cases being primarily attributed to male factor, such as impaired spermatogenesis. Genetic screening for non-obstructive azoospermia is limited to karyotyping and Y chromosome microdeletion screening. However, for patients with de la Chapelle syndrome and/or Y chromosome microdeletions, sperm retrieval is often unsuccessful. A rare case of a patient with de la Chapelle syndrome and a complex chromosome rearrangement is reported, highlighting the high variability of X- and Y-chromosome breakpoints in this syndrome.
Review
Biochemistry & Molecular Biology
Esther Dos Santos, Marta Hita Hernandez, Valerie Serazin, Francois Vialard, Marie-Noelle Dieudonne
Summary: Maternal obesity is associated with increased morbidity and mortality rates in mothers and children, and the placenta plays a crucial role in mediating the effects of the maternal environment on fetal development. This review focuses on the impact of maternal obesity (without gestational diabetes) on various aspects of placental function, including endocrine function, morphology, nutrient exchanges and metabolism, inflammatory/immune status, oxidative stress, and transcriptome. Understanding the sex-specific placental responses to maternal obesity is important for improving pregnancy outcomes and maternal and child health.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Berangere Coutanceau, Esther Dos Santos, Nelly Swierkowski Blanchard, Anne Sanchez Louboutin, Florence Boitrelle, Francois Margueritte, Francois Vialard, Valerie Serazin, Khadija Fathallah
Summary: Repeated embryo implantation failures (RIF) cause distress and frustration. Current treatments for RIF are empirical and ineffective. Immune dysregulation and imbalance of cytokines may be the main cause, suggesting potential for new treatments to increase implantation rate.
