Publications by authors named "Lores P"
Fasciola hepatica, a worldwide distributed helminth, has a robust immunoregulatory effect in the host, increasing the susceptibility to secondary infections. Foot and mouth disease (FMD) is a highly contagious acute vesicular viral disease effectively controlled by vaccination in endemic regions. Despite the evidence of immunoregulatory effects, the impact of fasciolosis on the immune response induced by FMD vaccination in cattle has never been assessed.
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- * Researchers discovered homozygous variants linked to the condition in four unrelated patients, which disrupted the localization of certain proteins essential for sperm flagellum function.
- * The study identified ZMYND12 as a new gene associated with asthenoteratozoospermia, which forms a complex with other proteins critical for sperm motility, affecting male fertility.
Article Synopsis
- Sperm fertilization depends on effective movement through the female reproductive system and a process called capacitation, which is influenced by specific signaling pathways.
- Researchers studied an infertile patient with poor sperm motility and found harmful genetic variants affecting proteins related to sperm function.
- The study reveals that these genetic mutations impair sperm's ability to undergo necessary chemical changes for successful fertilization and identifies a crucial protein, IQCH, essential for sperm movement and capacitation.
Fasciola hepatica, one of the agents that causes fasciolosis, modulates the host immune system to allow parasite survival in the host. F. hepatica expresses carbohydrate-containing glycoconjugates that are decoded by C-type lectin receptors, such as Dectin-1, mannose receptor, DC-SIGN and MGL, that are mainly present on myeloid antigen presenting cells (APCs) and can mediate immunoregulatory properties on T cells.
View Article and Find Full Text PDFLung cancer is the first leading cause of cancer-related deaths in the world. Aberrant glycosylation in lung tumors leads to the expression of tumor-associated carbohydrate structures, such as the Tn antigen, consisting of -acetyl-galactosamine (GalNAc) linked to a serine or threonine residue in proteins (α-GalNAc-O-Ser/Thr). The Tn antigen can be recognized by the Macrophage Galactose/GalNAc lectin (MGL), which mediates various immune regulatory and tolerogenic functions, mainly by reprogramming the maturation of function of dendritic cells (DCs).
View Article and Find Full Text PDFFasciola hepatica, a worldwide-distributed liver fluke, is one of the causative agents of fasciolosis, a zoonotic disease that affects livestock and humans. In livestock, fasciolosis causes huge economic losses worldwide, reducing animal fertility, milk production, weight gain and condemnation of livers. In spite of the availability of drugs, such as triclabendazole (TCZ), for the treatment of fasciolosis, they do not necessarily prevent liver damage or parasite reinfection and can eventually increase parasite resistance.
View Article and Find Full Text PDFis a fluke that infects livestock and humans causing fasciolosis, a zoonotic disease of increasing importance due to its worldwide distribution and high economic losses. The parasite regulates the host immune system by inducing a strong Th2 and regulatory T (Treg) cell immune response through mechanisms that might involve the expression or activity of heme-oxygenase-1 (HO-1), the rate-limiting enzyme in the catabolism of free heme that also has immunoregulatory and antioxidant properties. In this paper, we show that -infected mice upregulate HO-1 on peritoneal antigen-presenting cells (APC), which produce decreased levels of both reactive oxygen and nitrogen species (ROS/RNS).
View Article and Find Full Text PDFCancer is a leading cause of death worldwide, accounting for nearly 10 million deaths. Among breast cancers (BC) subtypes, triple-negative (TN) BC is characterized by metastatic progression and poor patient prognosis. Although, TNBC is initially sensitive to chemotherapy, many TNBC patients rapidly develop resistance, at which point metastatic disease is highly lethal.
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- The study investigates whether ICSI (intracytoplasmic sperm injection) outcomes are negatively affected in men with severe asthenozoospermia combined with multiple morphological abnormalities of the flagellum (MMAF).
- Results indicate that ICSI success for couples with MMAF is comparable to that of other infertile couples, despite some technical challenges encountered.
- The research involved a retrospective analysis of 25 infertile men diagnosed with MMAF, using advanced techniques to assess sperm structure and genetic causes, ultimately treating 20 couples with ICSI.
Article Synopsis
- * A study involving 167 infertile men revealed a specific genetic variant in IFT74 that affects sperm flagellum structure, leading to multiple morphological abnormalities of the sperm flagellum (MMAF).
- * The mutation in IFT74 causes unique protein changes that result in primary male infertility, highlighting how different mutations can lead to distinct clinical outcomes within the broad spectrum of ciliopathies.
Article Synopsis
- Asthenozoospermia is the leading cause of male infertility, characterized by reduced sperm motility due to defects in the sperm flagellum.
- The study presents a case of a man with asthenozoospermia that lacks major sperm flagellar abnormalities but has a homozygous mutation in the SLC9C1 gene, linked to sperm pH regulation and motility.
- The mutation leads to a significant protein change, identifying SLC9C1 as a novel genetic cause of asthenozoospermia and suggesting its importance for sperm function in humans.
Article Synopsis
- Structural defects in sperm flagella lead to asthenozoospermia, a common issue in infertile men, particularly seen as "short tails" (MMAF).
- Research on 167 individuals with MMAF revealed that over 30% had harmful mutations, notably in the TTC29 gene, which is crucial for sperm flagellar function.
- Further studies in model organisms confirmed that TTC29 is vital for maintaining proper sperm flagellum structure and movement, linking its mutations to male infertility.
SWI/SNF chromatin remodeling enzymes are multisubunit complexes that contain one of two catalytic subunits, BRG1 or BRM and 9-11 additional subunits called BRG1 or BRM-associated factors (BAFs). BRG1 interacts with the microphthalmia-associated transcription factor (MITF) and is required for melanocyte development in vitro and in vivo. The subunits of SWI/SNF that mediate interactions between BRG1 and MITF have not been elucidated.
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- A study of a 26-week-old male fetus with severe intrauterine growth restriction (IUGR) revealed a genetic duplication on chromosome 19 inherited from the father.
- This duplication includes the ZNF331 gene, which is normally imprinted and only expressed from the father's side in the placenta; however, in the fetus, both copies are being expressed.
- The higher expression levels of ZNF331 in the fetus's placental and renal tissues suggest a potential link between this gene and the causes of isolated IUGR, highlighting the utility of chromosomal microarray analysis (CMA) in such cases.
Article Synopsis
- * Mutations in the SLC26A3 gene lead to CLD, which is characterized by persistent diarrhea and can affect male fertility, as suggested by some patients showing subfertility.
- * Research on mice lacking SLC26A3 revealed significant reproductive issues, including damage to the epididymis and defects in sperm quantity and function, highlighting the connection between SLC26A3 and male reproductive health in the context of CLD.
Article Synopsis
- The MMAF phenotype is a severe sperm defect leading to male infertility, characterized by immotile sperm with various flagellar abnormalities.
- Recent research identified mutations in the CFAP69 gene that are linked to MMAF, accounting for additional cases of this condition.
- Studies in both humans with CFAP69 mutations and a mouse model demonstrate that CFAP69 is essential for the proper formation and stability of flagella in sperm.
Article Synopsis
- Spermatogenesis issues affect millions of men globally, but many remain undiagnosed.
- The research identified 22 men with primary infertility linked to mutations in genes DNAH1, CFAP43, and CFAP44, confirmed through genetic sequencing.
- CRISPR/Cas9 experiments on mice demonstrated that CFAP43 and CFAP44 are crucial for producing functional sperm flagella, underscoring their importance across different species.
Article Synopsis
- The axoneme, a conserved microtubule structure in motile cilia and sperm flagella, is crucial for motility, and defects in it can lead to primary ciliary dyskinesia (PCD) and related health issues like male infertility and respiratory infections.! -
- Recent findings link mutations in axonemal protein genes, particularly in a protein called AK7, to male infertility characterized by Multiple Morphological Abnormalities of the sperm Flagella (MMAF), without PCD symptoms.! -
- This study identifies a specific mutation in AK7 that causes loss of the protein in sperm but not in respiratory cells, highlighting that cilia and sperm flagella, while similar, may
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a genetic disorder affecting cilia functionality, leading to respiratory issues and male infertility due to defective sperm motility.
- Researchers aimed to understand a specific PCD variant with normal dynein structure but central complex defects, analyzing the genome of a male patient through whole-exome sequencing.
- They discovered a homozygous mutation in the DNAJB13 gene linked to protein instability and dysfunction in cilia and sperm, identifying it as a new cause of PCD and highlighting its importance in proper ciliary function.
Article Synopsis
- Traditional medicine has a long history of use for disease treatment and contraception, but research on herbal effects on sperm is limited.
- In this study, essential oil from the plant Thymus munbyanus was analyzed, revealing 64 components with thymol being the most prominent.
- The essential oil and thymol were found to negatively affect human sperm motility and fertility-related functions in vitro, suggesting their potential as anti-spermatic agents in reproductive biology.
Article Synopsis
- MgcRacGAP (RACGAP1) is a protein crucial for cell division, primarily found in the embryonic brain and post-natal testis of mice, and it regulates key processes like cell proliferation and movement.
- Inactivation of MgcRacGAP leads to failed cell division in embryos and germ cells, causing defects like a syncytium during spermatogenesis and embryonic lethality in studies with mice and worms.
- Conditional knock-out experiments showed that deleting MgcRacGAP in pre-meiotic germ cells resulted in male sterility and an inability to form intercellular bridges, suggesting potential implications for sperm production issues in humans linked to genetic mutations.
Article Synopsis
- The Slc26 gene family includes anion transporters linked to various human genetic disorders, particularly focusing on the TAT1 protein, which is vital for male fertility.
- Deletion of the Tat1 gene in mice leads to male sterility due to issues with sperm motility and structure, impacting sperm capacitation necessary for fertilization.
- TAT1 interacts with the CFTR protein, enhancing its activity, and both play a key role in regulating chloride and bicarbonate movement during sperm activation, where mutations in these proteins may contribute to fertility problems in humans.
Article Synopsis
- Rho GTPases regulate the actin cytoskeleton and membrane trafficking, and are often exploited by pathogens for cell invasion.
- The study focuses on the CNF1 toxin from uropathogenic E. coli, showing it enhances bacteria entry into host cells via Rac1, and identifies Tollip as a crucial protein in this process.
- Knockdown of Tollip, along with other proteins like Tom1 and clathrin, hinders Rac1-dependent entry of both UPEC and Listeria monocytogenes, establishing a connection between these proteins and the mechanisms used by bacteria to invade host cells.