Article
Developmental Biology
Huanping Guo, Xipeng Shen, Hua Hu, Peng Zhou, Tong He, Lin Xia, Dongmei Tan, Xi Zhang, Yunfang Zhang
Summary: This study characterized the RNA modification signature of human sperm for the first time using a high-throughput detection platform, revealing RNA modifications with high linear correlations with clinical sperm motility. These findings provide promising candidates for clinical sperm quality assessment and offer new research insights into the underlying pathological mechanisms of human male infertility syndromes.
MOLECULAR HUMAN REPRODUCTION
(2022)
Article
Cell Biology
Daniele Santi, Giorgia Spaggiari, Leonardo Dalla Valentina, Marilina Romeo, Federico Nuzzo, Lorenzo Serlenga, Laura Roli, Maria Cristina De Santis, Tommaso Trenti, Antonio R. M. Granata, Manuela Simoni
Summary: This study aimed to identify parameters that can predict the efficacy of follicle-stimulating hormone (FSH) treatment in male idiopathic infertility. The results showed that the percentage increase in sperm concentration after FSH administration can predict the treatment's efficacy in terms of pregnancy, and the efficacy was significantly higher in patients with a starting sperm concentration < 7.3 million/mL.
Review
Cell Biology
John Charles Rotondo, Carmen Lanzillotti, Chiara Mazziotta, Mauro Tognon, Fernanda Martini
Summary: Research has shown a correlation between sperm DNA methylation and male infertility, with various genes displaying differential methylation patterns in impaired spermatogenesis and reproductive dysfunction. Specifically, DNA methylation defects in MEST and H19 within imprinted genes, as well as MTHFR within non-imprinted genes, have been linked to male infertility. Further studies are needed to better understand the mechanisms affecting methylation in sperm and its impact on male infertility.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Rita I. Pacheco, Maria I. Cristo, Sandra I. Anjo, Andreia F. Silva, Maria Ines Sousa, Renata S. Tavares, Ana Paula Sousa, Teresa Almeida Santos, Mariana Moura-Ramos, Francisco Caramelo, Bruno Manadas, Joao Ramalho-Santos, Sandra Gomes Amaral
Summary: The global trend of rising (male) infertility is concerning. This study aimed to understand unknown origin male infertility (UOMI) by evaluating the male gamete. The study found that idiopathic (ID) patients had the worst sperm functional profile, while unexplained male infertility (UMI) patients were similar to controls. Proteomic analysis identified several differentially expressed proteins in ID and UMI samples. SACA4 and LAMB2 were identified as potential biomarkers for distinguishing ID and UMI patients.
Article
Multidisciplinary Sciences
Ferran Barrachina, Kiera Ottino, Maia Lina Elizagaray, Maria Gracia Gervasi, Leona J. Tu, Styliani Markoulaki, Raul G. Spallanzani, Diane Capen, Dennis Brown, Maria Agustina Battistone
Summary: Regulatory T cells play a crucial role in maintaining the tolerogenic state of the testis and epididymis. Depletion of Tregs leads to autoimmune orchitis and epididymitis, affecting sperm production and leading to fertility defects. Understanding these immunoregulatory mechanisms could aid in the development of new treatments for male infertility and immunocontraception.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Cell Biology
Masood Abu-Halima, Lea Simone Becker, Mohammad A. A. Al Smadi, Hashim Abdul-Khaliq, Markus Raeschle, Eckart Meese
Summary: This study found that genes and proteins related to sperm motility showed altered expression levels in men diagnosed with oligoasthenozoospermia, indicating their potential as diagnostic markers for male infertility.
Review
Endocrinology & Metabolism
Francesco Muscianisi, Luca De Toni, Gloria Giorato, Andrea Carosso, Carlo Foresta, Andrea Garolla
Summary: Infertility is a global health issue affecting up to 16% of couples, with male infertility accounting for about 50% of cases. Sexually transmitted infections (STI) are increasingly recognized as a potential etiological factor for male infertility, with studies showing the presence of HPV in seminal fluid as a possible cause of infertility in males.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Cell Biology
Ankit Jaiswal, Tatiana Baliu-Souza, Katerina Turner, Nagalakshmi Nadiminty, Amarnath Rambhatla, Ashok Agarwal, Stephen A. Krawetz, James M. Dupree, Barbara Saltzman, Samantha B. Schon, Tomer Avidor-Reiss
Summary: The study developed a FRAC assay to determine sperm centriole quality and found that it can identify men from couples with unexplained infertility as the likely source of infertility.
EUROPEAN JOURNAL OF CELL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Emily P. P. Evans, Jorien T. M. Scholten, Aldona Mzyk, Claudia Reyes-San-Martin, Arturo E. Llumbet, Thamir Hamoh, Eus G. J. M. Arts, Romana Schirhagl, Astrid E. P. Cantineau
Summary: Currently, 15% of couples are suffering from infertility, with 45-50% of cases attributed to male factors. Free radicals or reactive oxygen species (ROS) play a key role in the fertility process, while also serving important functions in sperm maturation. These ROS are influenced by lifestyle, age, and disease.
Article
Biochemistry & Molecular Biology
Filomena Mottola, Marianna Santonastaso, Valentina Ronga, Renata Finelli, Lucia Rocco
Summary: This study investigated the association between polymorphic rearrangements of chromosome 9 and male infertility. The results suggested that these rearrangements might be associated with abnormalities in sperm quality, indicating their potential impact on spermatogenesis regulation.
Review
Immunology
Yiwei Fang, Yufang Su, Jia Xu, Zhiyong Hu, Kai Zhao, Chunyan Liu, Huiping Zhang
Summary: Studies have shown that varicocele can disrupt the testicular immune system, leading to the production of anti-sperm antibodies and inflammatory factors, activation of inflammatory pathways, and disruption of the blood-testis barrier, potentially impacting the occurrence of infertility. Therefore, further research on how immunotherapy can improve patient outcomes is crucial.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Arnaud Zuber, Adriana Peric, Nicola Pluchino, David Baud, Milos Stojanov
Summary: The human body is colonised by microorganisms, including the genital tract which has been linked to male infertility and pathological conditions like prostate cancer. However, research on the microbiota of the male genital tract remains lacking due to difficulties in sampling and low abundance of microbiota. This narrative review aims to present the results of studies using next-generation sequencing to examine bacterial colonisation patterns in different anatomical compartments of the male genital tract and highlight their findings and limitations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Ling-Yu Yeh, Robert Kuo-Kuang Lee, Ming-Huei Lin, Chih-Hung Huang, Sheng-Hsiang Li
Summary: This study aimed to assess the correlation between sperm miRNA levels and ICSI outcomes. The results showed that miR-34b and miR-34c were significantly associated with ICSI clinical outcomes in male factor infertility, especially teratozoospermia. However, these miRNAs were not associated with fertilization rate and early embryo development, but with implantation, pregnancy, and live birth rates.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Endocrinology & Metabolism
Aditi Sharma, Suks Minhas, Waljit S. Dhillo, Channa N. Jayasena
Summary: Male infertility due to testicular failure is a common issue, with multiple factors contributing to this condition. While new therapeutic approaches have been developed, there is currently a lack of high-quality clinical trial data available.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Fei Huang, Jun Zeng, Dan Liu, Jing Zhang, Boluo Liang, Jingping Gao, Rong Yan, Xiaobo Shi, Jianlin Chen, Wanjuan Song, Hua-Lin Huang
Summary: This study identified a novel homozygous frameshift mutation in DNAH6 gene in two patients with asthenoteratozoospermia from a consanguineous Uighur family in China. The mutation led to multiple morphological and ultrastructural abnormalities of spermatozoa. The findings of this study expand the spectrum of genetic mutations associated with asthenoteratozoospermia and may have implications for genetic counseling and assisted reproduction in male infertility.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemical Research Methods
Ferran Barrachina, Meritxell Jodar, David Delgado-Duenas, Ada Soler-Ventura, Josep Maria Estanyol, Carme Mallofre, Josep Lluis Ballesca, Rafael Oliva
MOLECULAR & CELLULAR PROTEOMICS
(2019)
Article
Biochemical Research Methods
Ada Soler-Ventura, Marina Gay, Meritxell Jodar, Mar Vilanova, Judit Castillo, Gianluca Arauz-Garofalo, Laura Villarreal, Josep Lluis Ballesca, Marta Vilaseca, Rafael Oliva
JOURNAL OF PROTEOME RESEARCH
(2020)
Article
Cell Biology
Judit Castillo, Orleigh Adeleccia Bogle, Meritxell Jodar, Forough Torabi, David Delgado-Duenas, Josep Maria Estanyol, Josep Lluis Ballesca, David Miller, Rafael Oliva
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2019)
Article
Obstetrics & Gynecology
Meritxell Jodar, Claudio Attardo-Parrinello, Ada Soler-Ventura, Ferran Barrachina, David Delgado-Duenas, Salvadora Civico, Josep Maria Calafell, Josep Lluis Ballesca, Rafael Oliva
REPRODUCTIVE BIOMEDICINE ONLINE
(2020)
Article
Endocrinology & Metabolism
Iva Arato, Giuseppe Grande, Ferran Barrachina, Catia Bellucci, Cinzia Lilli, Meritxell Jodar, Maria Chiara Aglietti, Francesca Mancini, Federica Vincenzoni, Alfredo Pontecorvi, Riccardo Calafiore, Rafael Oliva, Giovanni Luca, Francesca Mancuso, Domenico Milardi
FRONTIERS IN ENDOCRINOLOGY
(2020)
Article
Andrology
Marc Torra-Massana, Meritxell Jodar, Montserrat Barragan, Ada Soler-Ventura, David Delgado-Duenas, Amelia Rodriguez, Rafael Oliva, Rita Vassena
Summary: This study conducted the first proteomic analysis of spermatozoa from patients who experienced fertilization failure after ICSI, revealing significant alterations in protein content in the FF group, mainly related to mitochondrial proteins. Novel stable-protein pair analysis indicated that specific mitochondrial proteins lost correlations in specific FF samples, highlighting mitochondrial deregulations in FF patients.
Article
Obstetrics & Gynecology
F. Barrachina, M. A. Battistone, J. Castillo, C. Mallofre, M. Jodar, S. Breton, R. Oliva
Summary: The study demonstrates that sperm acquire proteins from epididymosomes during post-testicular maturation, providing insights into the mechanisms of sperm maturation and potential therapeutic strategies for male infertility. The results highlight the novel role of epididymal clear cells in producing epididymosomes, contributing to a better understanding of male reproductive health.
HUMAN REPRODUCTION
(2022)
Article
Endocrinology & Metabolism
Giuseppe Grande, Ferran Barrachina, Ada Soler-Ventura, Meritxell Jodar, Francesca Mancini, Riccardo Marana, Sabrina Chiloiro, Alfredo Pontecorvi, Rafael Oliva, Domenico Milardi
Summary: This study used proteomic profiling to analyze alterations of sperm protein composition in secondary male hypogonadism. Several differentially expressed proteins were identified and may serve as new targets for infertility treatments due to androgen deficiency.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Obstetrics & Gynecology
Ferran Barrachina, Alberto de la Iglesia, Meritxell Jodar, Ada Soler-Ventura, Carme Mallofre, Leonardo Rodriguez-Carunchio, Afsaneh Goudarzi, Juan Manuel Corral, Josep Lluis Ballesca, Judit Castillo, Rafael Oliva
Summary: In this study, the researchers investigated the alteration of histone H4 acetylation (H4ac) in the seminiferous tubules of testicular tumour patients. They found a considerable dysregulation of H4ac in the unaffected cells of the seminiferous tubules adjacent to the tumours, suggesting a potential paracrine effect of the neoplasia. This epigenetic alteration could have implications for the molecular changes in male germ cells in testicular tumour patients.
HUMAN REPRODUCTION
(2022)
Review
Medicine, General & Internal
Miriam Potrony, Antoni Borrell, Narcis Masoller, Alfons Nadal, Leonardo Rodriguez-Carunchio, Karmele Saez de Gordoa Elizalde, Juan Francisco Quesada-Espinosa, Jose Luis Villanueva-Canas, Montse Pauta, Meritxell Jodar, Irene Madrigal, Celia Badenas, Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga
Summary: Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. This case report describes a fetus with ultrasound alterations at 28 weeks of gestation, which was later terminated and confirmed to have distal arthrogryposis, fetal growth restriction, pulmonary hypoplasia, and retrognathia. Exome sequencing revealed novel compound heterozygous variants in the GLDN gene associated with LCCS11.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Alberto de la Iglesia, Paula Jauregi, Meritxell Jodar, Ferran Barrachina, Lukas Ded, Carme Mallofre, Leonardo Rodriguez-Carunchio, Juan Manuel Corral, Josep Lluis Ballesca, Katerina Komrskova, Judit Castillo, Rafael Oliva
Summary: The study reveals the dual behavior of H4K5bu and H4K5ac in human spermatogenesis, with both modifications present at different stages of sperm development. These modifications remain stable under different testicular pathologies and are retained in ejaculated sperm. However, no direct association between these modifications and sperm quality was observed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Letter
Clinical Neurology
Esteban Munoz, Meritxell Jodar, Jairo Guerrero, Yaroslau Compta, Andres Perissinotti, Maria I. Alvarez-Mora, Neus Falgas, Laia Rodriguez-Revenga, Raquel Sanchez-Valle
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Genetics & Heredity
Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez, Celia Badenas, Josep Oriola, Jose Luis Villanueva-Canas, Esteban Munoz, Francesc Valldeoriola, Ana Camara, Yaroslau Compta, Mar Carreno, Maria Jose Marti, Raquel Sanchez-Valle, Irene Madrigal
Summary: Neurological disorders (ND) are diseases that affect the brain and the central and autonomic nervous systems. Next generation sequencing (NGS) is strongly recommended as a first-line test for diagnosing these disorders. Whole exome sequencing (WES) is the preferred technology for diagnosing monogenic ND. The implementation of WES has improved the diagnostic process and has a diagnostic rate of around 32% in ND.
Review
Medicine, Research & Experimental
Alberto de la Iglesia, Meritxell Jodar, Rafael Oliva, Judit Castillo
Summary: Male germ cells undergo a process of chromatin remodeling during spermatogenesis and sperm maturation in which most histones are replaced by protamines. This process is epigenetically regulated and plays a crucial role in achieving proper chromatin compaction and sperm functionality. Human sperm chromatin contains various protamine proteoforms, and their absence can lead to chromatin compaction defects and infertility phenotypes.
WIRES MECHANISMS OF DISEASE
(2023)
Article
Biochemistry & Molecular Biology
Gianluca Arauz-Garofalo, Meritxell Jodar, Mar Vilanova, Alberto de la Iglesia Rodriguez, Judit Castillo, Ada Soler-Ventura, Rafael Oliva, Marta Vilaseca, Marina Gay
Summary: Protamines replace histones as the main nuclear protein in sperm cells and play a crucial role in compacting the paternal genome. Analysis of protamine proteoforms using top-down proteomics reveals potential associations with male infertility. Difficulties in data analysis can be overcome by combining different software packages and algorithms to decipher protamine proteoforms, providing new insights into personalized diagnosis of male infertility.