Human globozoospermia-related genes and their role in acrosome biogenesis.

The mammalian acrosome is a secretory vesicle attached to the sperm nucleus whose fusion with the overlying plasma membrane is required to achieve fertilization. Acrosome biogenesis starts during meiosis, but it lasts through the entire process of haploid cell differentiation (spermiogenesis). Acrosome biogenesis is a stepwise process that involves membrane traffic from the Golgi apparatus, but it also seems that the lysosome/endosome system participates in this process. Defective sperm head morphology is accompanied by defective acrosome shape and function, and patients with these characteristics are infertile or subfertile. The most extreme case of acrosome biogenesis failure is globozoospermia syndrome, which is primarily characterized by the presence of round-headed spermatozoa without acrosomes with cytoskeleton defects around the nucleus and infertility. Several genes participating in acrosome biogenesis have been uncovered using genetic deletions in mice, but only a few of them have been found to be deleted or modified in patients with globozoospermia. Understanding acrosome biogenesis is crucial to uncovering the molecular basis of male infertility and developing new diagnostic tools and assisted reproductive technologies that may help infertile patients through more effective treatment techniques. This article is categorized under: Reproductive System Diseases > Environmental Factors Infectious Diseases > Stem Cells and Development Reproductive System Diseases > Molecular and Cellular Physiology.

Macrozoospermia associated with mutations of AURKC gene: First case report in Latin America and literature review.

A Chilean 35-year-old male patient with a history of primary infertility made an appointment at the Unit of Reproductive Medicine at Clínica Las Condes, Santiago, Chile. Multiple semen analyses revealed abnormal sperm morphology as the most prevalent finding. Multiflagellated and macrocephalic spermatozoa were observed and indicated a possible macrozoospermic phenotype. The constant presence of abnormal sperm morphology led the scope of the study to include Aurora Kinase C (AURKC) gene sequencing. The patient was diagnosed with a homozygous mutation of this gene. The mutation was detected in exon 6, type c.744C>G+/+ (P.Y248*) variant. As previously described in the Human Gene Mutation Database (HGMD), this pathogenic variant is associated with macrozoospermia. Although this mutation is not the most frequently observed, it is the first of its kind reported in Latin America.

Peça intermediária de espermatozoides bovinos: funções e anormalidades / Midpiece of bovine spermatozoa: functions and abnormalities

O reprodutor tem grande importância na cadeia produtiva por possuir maior potencial de difusão do seu material genético dentro do rebanho do que as fêmeas que produzem apenas uma cria por ano, em manejo de monta natural. Entretanto, este potencial somente se torna real quando os machos apresentam boa qualidade seminal, resultando em menores taxas de retorno ao estro. No entanto, apesar das características reprodutivas apresentarem baixa herdabilidade, é consensual que algumas patologias espermáticas possam apresentar características hereditárias e neste caso podem permanecer disseminadas nos rebanhos. Entre as anomalias espermáticas identificadas nos ejaculados de bovinos, as patologias de peça intermediária são classificadas como defeitos espermáticos maiores, comprometendo a fertilidade dos reprodutores, porém estas têm recebido pouca atenção. O objetivo deste trabalho de revisão é apresentar os principais estudos sobre a formação da peça intermediária, sua importância e como esta pode sofrer anormalidades, visto que ejaculados com presença destas anomalias apresentam baixa motilidade espermática e fertilidade.(AU)

Bulls are of immense importance in the productive chain because they have a greater potential of diffusion of genetic material within the herd than females that produce only one calf per year in natural mating management. However, this potential is only achieved when males present good seminal quality, resulting in lower rates of return to estrus. Although the reproductive traits have low heritability, it is consensual that some sperm pathologies may present hereditary characteristics and in this case they can remain disseminated in the herds. Among the sperm abnormalities identified in bovine ejaculates, the midpiece pathologies are classified as a major sperm defect, compromising bull fertility, but these pathologies have received little attention. The objective of this review is to present the main studies on the midpiece formation, its importance and how it can undergo abnormalities, since ejaculates with the presence of this pathology present low sperm motility and fertility.(AU)

Peça intermediária de espermatozoides bovinos: funções e anormalidades / Midpiece of bovine spermatozoa: functions and abnormalities

O reprodutor tem grande importância na cadeia produtiva por possuir maior potencial de difusão do seu material genético dentro do rebanho do que as fêmeas que produzem apenas uma cria por ano, em manejo de monta natural. Entretanto, este potencial somente se torna real quando os machos apresentam boa qualidade seminal, resultando em menores taxas de retorno ao estro. No entanto, apesar das características reprodutivas apresentarem baixa herdabilidade, é consensual que algumas patologias espermáticas possam apresentar características hereditárias e neste caso podem permanecer disseminadas nos rebanhos. Entre as anomalias espermáticas identificadas nos ejaculados de bovinos, as patologias de peça intermediária são classificadas como defeitos espermáticos maiores, comprometendo a fertilidade dos reprodutores, porém estas têm recebido pouca atenção. O objetivo deste trabalho de revisão é apresentar os principais estudos sobre a formação da peça intermediária, sua importância e como esta pode sofrer anormalidades, visto que ejaculados com presença destas anomalias apresentam baixa motilidade espermática e fertilidade.

Bulls are of immense importance in the productive chain because they have a greater potential of diffusion of genetic material within the herd than females that produce only one calf per year in natural mating management. However, this potential is only achieved when males present good seminal quality, resulting in lower rates of return to estrus. Although the reproductive traits have low heritability, it is consensual that some sperm pathologies may present hereditary characteristics and in this case they can remain disseminated in the herds. Among the sperm abnormalities identified in bovine ejaculates, the midpiece pathologies are classified as a major sperm defect, compromising bull fertility, but these pathologies have received little attention. The objective of this review is to present the main studies on the midpiece formation, its importance and how it can undergo abnormalities, since ejaculates with the presence of this pathology present low sperm motility and fertility.

Systematic tracking of altered modules identifies disrupted pathways in teratozoospermia.

The objective of this study was to identify disrupted pathways in teratozoospermia by systematically tracking dysregulated modules in reweighted protein-protein interaction (PPI) networks. We inferred and reweighted the PPI networks of normal and teratozoospermia groups based on Spearman correlation coefficients. Modules in the PPI networks were explored via a clique-merging algorithm and altered modules were identified based on maximum weight bipartite matching. Furthermore, pathway-enrichment analyses of genes in altered modules were performed by Database for Annotation, Visualization, and Integrated Discovery (DAVID) to illuminate the biological pathways in teratozoospermia. A total of 20,102 genes were screened from the expression profile. We explored 2406 and 2101 modules in normal and disease PPI networks, respectively. Moreover, we obtained 875 altered modules by comparing modules in normal and teratozoospermia PPI networks. At P < 0.01, the genes involved in 2855 interactions with score changes >1 were mainly enriched in 66 pathways and the genes in altered modules were enriched in 71 pathways. The activity genes (missed and added genes in the disrupted modules) were enriched in 41 common pathways. There were 36 mutual enriched pathways under the five different conditions. Moreover, the cell cycle pathway was disrupted in the first 10 pathways of each condition. This study provides a powerful biomarker discovery platform to better understand the progression of teratozoospermia by systematically tracking dysregulated modules. This method uncovered potential diagnostic and therapeutic targets of teratozoospermia. This information might lead to improved monitoring and treatment of teratozoospermia.