Primary Ciliary Dyskinesia: A Clinical Review

Cells, Journal Year: 2024, Volume and Issue: 13(11), P. 974 - 974

Published: June 4, 2024

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy, characterized by neonatal respiratory distress, recurrent upper and lower tract infections, subfertility, laterality defects. Diagnosis relies on combination of tests for confirmation, including nasal nitric oxide (nNO) measurements, high-speed videomicroscopy analysis (HSVMA), immunofluorescent staining, axonemal ultrastructure via transmission electron microscopy (TEM), genetic testing. Notably, there no single gold standard confirmatory or exclusionary test. Currently, 54 causative genes involved in cilia assembly, structure, function have been linked to PCD; this rare disease has spectrum clinical manifestations emerging genotype–phenotype relationships. In review, we provide an overview the structure cilia, genetics pathophysiology disease, as well features associated with ciliopathies, novel diagnostic tools, updates relationships PCD.

Language: Английский

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Magnetohydrodynamic flow of Carreau Yasuda fluid inside a complex wavy passage formed by beating cilia: A finite-difference analysis

Proceedings of the Institution of Mechanical Engineers Part E Journal of Process Mechanical Engineering, Journal Year: 2023, Volume and Issue: unknown

Published: May 1, 2023

Inspired by the prevalence of non-Newtonian liquids in biological flows, our aim this article is to elaborate on flow Carreau-Yasuda fluid generated wavy cilia inside micro-channel. The impact complex wave and magnetic field (magnetohydrodynamics) are also taken into account. low Reynolds number large wavelength approximation employed simplify problem. finite-difference approach (finite-difference method) utilized get convergent solution problem MATLAB (2022b). emerging parameters axial velocity streamlines examined through various graphs. Moreover, a comparison among fluid, Carreau Newtonian expounded.

Language: Английский

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Epigenetic transgenerational inheritance of toxicant exposure-specific non-coding RNA in sperm

Current Zoology, Journal Year: 2024, Volume and Issue: 10(1)

Published: Jan. 1, 2024

Abstract Environmentally induced epigenetic transgenerational inheritance of phenotypic variation and disease susceptibility requires the germ cell (sperm or egg) transmission integrated mechanisms involving DNA methylation, histone modifications, non-coding RNA (ncRNA) actions. Previous studies have demonstrated that exposure disease-specific differential methylation regions (DMRs) in sperm are observed ncRNA-mediated occurs. The current study was designed to determine if exposure-specific ncRNAs exist sperm. Specifically, toxicants with distinct action including fungicide vinclozolin (anti-androgenic), pesticide dichlorodiphenyltrichloroethane (estrogenic), herbicide atrazine (endocrine disruptor at cyclic adenosine monophosphate level), hydrocarbon mixture jet fuel (JP8) (aryl receptor disruptor) were used promote phenotypes F3 generation outbred rats. New aliquots sperm, previously collected for analyses, ncRNA sequencing analyses nuclear RNA. Significant changes each lineage. majority small noncoding RNAs piwi-interacting RNA, tRNA-derived RNAs, microRNAs, rRNA-derived as well long ncRNAs. Although there some overlap among different classes across exposures, differentially expressed no overlapping between four lineages chromosomal locations gene associations identified a number ncRNA. Interestingly, an analysis DMRs populations ncRNA, but large population non-overlapping Observations suggest both within common exposures. lack co-localization many suggests distal integration mechanisms. potential use toxicant assessment appears feasible.

Language: Английский

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Cfap91-Dependent Stability of the RS2 and RS3 Base Proteins and Adjacent Inner Dynein Arms in Tetrahymena Cilia

Cells, Journal Year: 2022, Volume and Issue: 11(24), P. 4048 - 4048

Published: Dec. 14, 2022

Motile cilia and eukaryotic flagella are specific cell protrusions that conserved from protists to humans. They supported by a skeleton composed of uniquely organized microtubules—nine peripheral doublets two central singlets (9 × 2 + 2). Microtubules also serve as docking sites for periodically distributed multiprotein ciliary complexes. Radial spokes, the T-shaped complexes, repeat along outer triplets transduce regulatory signals cilium center doublet-docked dynein arms. Using genetic, proteomic, microscopic approaches, we have shown lack Tetrahymena Cfap91 protein affects stable docking/positioning radial spoke RS3 base RS2, adjacent inner arms, possibly due ability interact with molecular ruler protein, Ccdc39. The localization studies confirmed level RS3-specific proteins, Cfap61 Cfap251, well RS2-associated Cfap206, significantly diminished in CFAP91-KO cells. Cilia cells knocked-out CFAP91 beat an uncoordinated manner their beating frequency is dramatically reduced. Consequently, swam about hundred times slower than wild-type We concluded localizes at spokes RS2 likely plays role spoke(s) positioning stability.

Language: Английский

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The Cby3/ciBAR1 complex positions the annulus along the sperm flagellum during spermiogenesis

The Journal of Cell Biology, Journal Year: 2024, Volume and Issue: 223(3)

Published: Jan. 10, 2024

Proper compartmentalization of the sperm flagellum is essential for fertility. The annulus a septin-based ring that demarcates midpiece (MP) and principal piece (PP). It assembled at flagellar base, migrates caudally, halts upon arriving PP. However, mechanisms governing positioning remain unknown. We report Chibby3 (Cby3)/Cby1-interacting BAR domain-containing 1 (ciBAR1) complex required this process. Ablation either gene in mice results male fertility defects, caused by kinked flagella with mispositioned Cby3 ciBAR1 interact colocalize to near curved membrane invagination pocket. In absence Cby3, periannular membranes appear be deformed, allowing migrate over fibrous sheath into Collectively, our suggest Cby3/ciBAR1 regulates local properties position MP/PP junction.

Language: Английский

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RBL2 represses the transcriptional activity of Multicilin to inhibit multiciliogenesis

Cell Death and Disease, Journal Year: 2024, Volume and Issue: 15(1)

Published: Jan. 22, 2024

A core pathophysiologic feature underlying many respiratory diseases is multiciliated cell dysfunction, leading to inadequate mucociliary clearance. Due the prevalence and highly variable etiology of dysfunction in diseases, it critical understand mechanisms controlling multiciliogenesis that may be targeted restore functional Multicilin, a complex with E2F4, necessary sufficient drive airway epithelia, however this does not apply all types, nor occur evenly across cells same population. In study we further investigated how co-factors regulate ability Multicilin multiciliogenesis. Combining data mouse embryonic fibroblasts human bronchial epithelial cells, identify RBL2 as repressor transcriptional activity Multicilin. Knockdown submerged cultures or phosphorylation response apical air exposure, presence allows progress. These demonstrate dynamic interaction between regulates capacity differentiate multiciliate. Identification mechanism has important implications for facilitating MCC differentiation impaired

Language: Английский

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Human efferent ductules and epididymis display unique cell lineages with motile and primary cilia

Andrology, Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 30, 2024

Previous research has illustrated the role of cilia as mechanical and sensory antennae in various organs within mammalian male reproductive system across different developmental stages. Despite their significance both organ development homeostasis, primary human excurrent duct have been overlooked due to limited access specimens.

Language: Английский

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Structures and functions of cilia during vertebrate embryo development

Molecular Reproduction and Development, Journal Year: 2022, Volume and Issue: 89(12), P. 579 - 596

Published: Nov. 11, 2022

Abstract Cilia are hair‐like structures that project from the surface of cells. In vertebrates, most cells have an immotile primary cilium mediates cell signaling, and some specialized assemble one or multiple cilia motile beat synchronously to move fluids in direction. Gene mutations alter structure function cause a broad spectrum disorders termed ciliopathies impact virtually every system body. A wide range birth defects associated with underscores critical functions for during embryonic development. many cases, mechanisms underlying development disease remain poorly understood. This review describes different types vertebrate embryos discusses recent research results diverse model systems provide novel insights into how form embryo The work discussed here not only expands our understanding vivo biology, but also opens new questions about their roles establishing healthy embryos.

Language: Английский

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Efferent Ductules: Structure and Function

Elsevier eBooks, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 1, 2025

Language: Английский

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Artificial oocyte activation technology as adjuvant therapy for primary ciliary dyskinesia: a report of eight cases and literature review

Journal of Assisted Reproduction and Genetics, Journal Year: 2025, Volume and Issue: unknown

Published: April 21, 2025

Language: Английский

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