Genetic Causes of Qualitative Sperm Defects: A Narrative Review of Clinical Evidence

Genes, Journal Year: 2024, Volume and Issue: 15(5), P. 600 - 600

Published: May 8, 2024

Several genes are implicated in spermatogenesis and fertility regulation, these presently being analysed clinical practice due to their involvement male factor infertility (MFI). However, there still few genetic analyses that currently recommended for use practice. In this manuscript, we reviewed the causes of qualitative sperm defects. We distinguished between alterations causing reduced motility (asthenozoospermia) changes typical morphology (teratozoospermia). detail, may be found alteration associated with mitochondrial DNA, proteins, ion transport channels, flagellar proteins. On other hand, related conditions a strong basis, such as macrozoospermia, globozoospermia, acephalic spermatozoa syndrome. tried distinguish approved routine application from those unsupported by adequate studies. The most important aspect study was correct identification subjects tested tests based on clear data. available scenario where have been observed enables delivery defined diagnosis plays an role decision-making. Finally, clarifying MFI might, future, contribute reducing proportion so-called idiopathic MFI, which might indeed subtype whose cause has not yet revealed.

Language: Английский

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Reproductive Consequences of Electrolyte Disturbances in Domestic Animals

Biology, Journal Year: 2022, Volume and Issue: 11(7), P. 1006 - 1006

Published: July 3, 2022

Electrolyte balance is essential to maintain homeostasis in the body. The most crucial electrolytes are sodium (Na+), potassium (K+), magnesium (Mg2+), chloride (Cl-), and calcium (Ca2+). These ions volume of body fluids, blood pressure, participate muscle contractions, nerve conduction, important enzymatic reactions. mainly ensured by kidneys, which an organ that regulates composition urine, together with excess excreted. They also reproductive system, where they play a key role. In male acrosomal reaction sperm motility. Sodium, calcium, magnesium, related capacitation. Moreover, Mg2+, Ca2+, Na+ role spermatogenesis maintenance morphologically normal spermatozoa. Infertility problems becoming more common. It known disturbances electrolyte lead dysfunction. men, there decrease motility, loss capacitation, infertility. female associated estrogen synthesis. contraction relaxation uterus, sodium, potassium, calcium. Calcium oocyte activation. turn, women, changes follicular fluid observed, leading restriction growth. Imbalance electrolytes, resulting lack activation and, consequently,

Language: Английский

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The Role of Long Noncoding RNAs on Male Infertility: A Systematic Review and In Silico Analysis

Biology, Journal Year: 2022, Volume and Issue: 11(10), P. 1510 - 1510

Published: Oct. 15, 2022

Male infertility is a complex disorder affecting many couples worldwide. Long noncoding RNAs (lncRNAs) regulate important cellular processes; however, comprehensive understanding of their role in male limited. This systematic review investigates the differential expressions lncRNAs or variations lncRNA regions associated with it. The PRISMA guidelines were used to search Pubmed and Web Science (1 June 2022). Inclusion criteria human participants, patients diagnosed infertility, English language speakers. We also performed an silico analysis investigating that are reported subtypes infertility. A total 625 articles found, after screening eligibility stages, 20 studies included final sample. Many deregulated interactions between miRNAs play role. However, there knowledge gap regarding impact variants found regions. Furthermore, eight identified as differentially expressed After analysis, gene ontology (GO) KEGG enrichment genes targeted by them revealed association bladder prostate cancer. pathways involved general tumorigenesis cancer development all types, such p53 pathways, apoptosis, cell death, enriched, indicating link evidence, preliminary. Future research needed explore exact mechanism action investigate

Language: Английский

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Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

Andrology, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 2, 2025

Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize oocyte. This fundamental property is supported by flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide mechanical force for propulsion motility. Primary motility of cells acquired during their transit through epididymis hyperactivated throughout journey in a process called capacitation. These activation processes rely micro‐environment tracts. particular, capacitation, panoply ion transporters located at surface mediate complex exchanges, induce increase plasma membrane fluidity, alkalinization cytoplasm protein phosphorylation cascades are compulsory hyperactivation potential. As consequence, both structural functional defects flagellum can affect motility, resulting asthenozoospermia, constitutes most predominant pathological condition associated with human male infertility. Objectives Herein, we have performed literature review comprehensive description recent advances genetics asthenozoospermia. Results Discussion We describe currently knowledge gene mutations morphology namely, asthenoteratozoospermia; also specify exclusively function activation, discuss benefit this patient couple management, terms genetic counselling diagnosis infertility as sole phenotype or association ciliary defects. Last, current strategies been initiated development therapeutical contraceptive targeting genes essential activation.

Language: Английский

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SLO3: A Conserved Regulator of Sperm Membrane Potential

International Journal of Molecular Sciences, Journal Year: 2023, Volume and Issue: 24(13), P. 11205 - 11205

Published: July 7, 2023

Sperm cells must undergo a complex maturation process after ejaculation to be able fertilize an egg. One component of this is hyperpolarization the membrane potential more negative value. The ion channel responsible for hyperpolarization, SLO3, was first cloned in 1998, and since then much progress has been made determine how regulated its function intertwines with various signaling pathways involved sperm maturation. Although Slo3 originally thought present only mammals, recent evidence suggests that primordial form gene widely expressed some fish species. Slo3, like many reproductive genes, rapidly evolving low conservation between closely related species different regulatory pharmacological profiles. Despite these differences, SLO3 appears have conserved role regulating driving large changes response stimuli. effect may vary among mammalian just as regulation does. Recent discoveries elucidated processes human provided tools target affect fertility.

Language: Английский

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LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2023, Volume and Issue: unknown

Published: Feb. 26, 2023

Radial spokes (RS) are T-shaped multiprotein complexes on the axonemal microtubules. Repeated RS1, RS2, and RS3 couple central pair to modulate ciliary flagellar motility. Despite cell type specificity of substructures, their molecular components remain largely unknown. Here, we report that a leucine-rich repeat-containing protein, LRRC23, is an head component essential for its assembly motility in mammalian spermatozoa. From infertile male patients with defective sperm motility, identified splice site variant

Language: Английский

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Research progress on ion channels and their molecular regulatory mechanisms in the human sperm flagellum

The FASEB Journal, Journal Year: 2023, Volume and Issue: 37(7)

Published: June 23, 2023

Abstract The ion channels in sperm tail play an important role triggering key physiological reactions, e.g., progressive motility, hyperactivation, required for successful fertilization. Among them, CatSper and KSper have been shown to be the transport of Ca 2+ K + . Moreover, voltage‐gated proton channel Hv1, sperm‐specific sodium‐hydrogen exchanger (sNHE), epithelial sodium (ENaC), members temperature‐sensitive TRP family, cystic fibrosis transmembrane regulator (CFTR) are also found flagellum. This review focuses on latest advances located at flagellum, describes how they affect function, summarizes some primary mutual regulation mechanism between channels, including PH, membrane potential, cAMP. These may promising targets clinical application infertility.

Language: Английский

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In Vitro versus Cryo-Induced Capacitation of Bovine Spermatozoa, Part 2: Changes in the Expression Patterns of Selected Transmembrane Channels and Protein Kinase A

International Journal of Molecular Sciences, Journal Year: 2022, Volume and Issue: 23(23), P. 14646 - 14646

Published: Nov. 24, 2022

Since the molecular similarities and differences among physiological capacitation cryocapacitation have not been studied in detail, this study was designed to assess gene protein expression levels of Cation channel sperm (CatSper) 1 2, sodium bicarbonate (Na+/HCO3−) cotransporter (NBC) kinase A (PKA) un-capacitated (control), vitro capacitated (CAP) cryopreserved (CRYO) bovine spermatozoa. All samples were subjected motility evaluation using computer assisted analysis chlortetracycline (CTC) assay for assessment patterns. Furthermore, quantitative reverse transcription PCR (qRT-PCR) Western blots used monitor patterns selected markers. The results showed a significant reduction CatSper1 2 CRYO group when compared CAP (p < 0.0001). In case NBC, significantly different or inconclusive. While non-significant down-regulation PKA found group, frozen-thawed spermatozoa comparison 0.05). conclusion, we may hypothesize that while exhibit CTC-patterns consistent with events, machinery underlying CTC-positivity be different.

Language: Английский

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Associations between dietary macronutrient quality and asthenozoospermia risk: a hospital-based case-control study

Food & Function, Journal Year: 2024, Volume and Issue: 15(12), P. 6383 - 6394

Published: Jan. 1, 2024

Dietary macronutrient quality and asthenozoospermia risk.

Language: Английский

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LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility

eLife, Journal Year: 2023, Volume and Issue: 12

Published: Aug. 24, 2023

Radial spokes (RS) are T-shaped multiprotein complexes on the axonemal microtubules. Repeated RS1, RS2, and RS3 couple central pair to modulate ciliary flagellar motility. Despite cell type specificity of substructures, their molecular components remain largely unknown. Here, we report that a leucine-rich repeat-containing protein, LRRC23, is an head component essential for its assembly motility in mammalian spermatozoa. From infertile male patients with defective sperm motility, identified splice site variant LRRC23. A mutant mouse model mimicking this produces truncated LRRC23 at C-terminus fails localize tail, causing infertility due was previously proposed be ortholog RS stalk protein RSP15. However, found purified recombinant interacts RSPH9, which abolished by C-terminal truncation. Evolutionary structural comparison also shows LRRC34, not RSP15 ortholog. Cryo-electron tomography clearly revealed absence sperm-specific RS2-RS3 bridge structure Our study provides new insights into function spermatozoa pathogenicity underlying reduced human males.

Language: Английский

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