Zur Pathogenese der Bronchiektasien

Kartagener, M.

doi:10.1007/bf02140428

Cited by 25 publications

(5 citation statements)

References 6 publications

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“…Primary ciliary dyskinesia (PCD) encompasses a growing class of disorders caused by abnormal ciliary axonemal structure and function 20 . Unlike many mendelian genetic disorders, PCD is not caused by mutations in a single gene or locus, but rather autosomal, recessive mutation(s) in one of many genes that can lead to a similar phenotype characterized by chronic infections of the respiratory tract, male infertility and organ laterality defects 39,40 . To date, more than 50 PCD-associated mutations have been identified, accounting for only 70% of PCD patients.…”

Section: Discussionmentioning

confidence: 99%

Cytoglobin regulates NO-dependent cilia motility and organ laterality during development

Rochon,

Xue,

Mohammed

et al. 2023

Nat Commun

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Cytoglobin is a heme protein with unresolved physiological function. Genetic deletion of zebrafish cytoglobin (cygb2) causes developmental defects in left-right cardiac determination, which in humans is associated with defects in ciliary function and low airway epithelial nitric oxide production. Here we show that Cygb2 co-localizes with cilia and with the nitric oxide synthase Nos2b in the zebrafish Kupffer’s vesicle, and that cilia structure and function are disrupted in cygb2 mutants. Abnormal ciliary function and organ laterality defects are phenocopied by depletion of nos2b and of gucy1a, the soluble guanylate cyclase homolog in fish. The defects are rescued by exposing cygb2 mutant embryos to a nitric oxide donor or a soluble guanylate cyclase stimulator, or with over-expression of nos2b. Cytoglobin knockout mice also show impaired airway epithelial cilia structure and reduced nitric oxide levels. Altogether, our data suggest that cytoglobin is a positive regulator of a signaling axis composed of nitric oxide synthase–soluble guanylate cyclase–cyclic GMP that is necessary for normal cilia motility and left-right patterning.

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Section: Discussionmentioning

confidence: 99%

Cytoglobin regulates NO-dependent cilia motility and organ laterality during development

Rochon,

Xue,

Mohammed

et al. 2023

Nat Commun

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“…The two important variants of PCD are Kartagener's and Young's syndromes. 3 KS has a prevalence of one in 60,000 and is more common among people with consanguineous marriages. 4 It is inherited in an autosomal recessive pattern with incomplete penetrance.…”

Section: Discussionmentioning

confidence: 99%

Kartagener’s Syndrome: A Rare Case

Richa

Abrol

Sharma

et al. 2020

J. Nepal Paedtr. Soc.

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Kartagener’s syndrome, an autosomal recessively inherited disorder, is a subgroup of primary ciliary dyskinesias. This genetic disorder manifests from early life which distinguishes it from acquired mucociliary disorders. Kartagener’s syndrome presents as a classical triad of situs inversus, sinusitis and bronchiectasis occurring majorly due to impaired ciliary motility. Here we report a case of a four year old female child who presented to us with repeated episodes of cough and intermittent breathlessness for the past three years. Clinical examination revealed bilateral coarse basal crepitations and apex beat on right fifth intercostal space in the midclavicular line. A thorough investigation revealed situs inversus, chronic sinusitis, and bilateral bronchiectasis. The patient underwent a high-speed video microscopy analysis which was suggestive of primary ciliary dyskinesia. Considering these findings, the patient was diagnosed as a case of Kartagener’s syndrome.

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“…PCD patients have paralyzed cilia that cannot move mucus to clear airways (called mucociliary clearance), which leads to a buildup of mucus in craniofacial sinuses and in pulmonary airways that and ultimately affects lung function and cause bronchiectasis (Storm van's Gravesande and Omran 2005;Leigh et al, 2019). During the first part of the 20th century, physicians Siewert (Siewert 1903) and Kartagener (Kartagener 1933) described patients with the combination of bronchiectasis and SIT, providing a link between these seemingly disparate abnormalities. Today, the triad of bronchiectasis, chronic sinusitis, and a laterality disorder is referred to as Kartagener syndrome (KS) (Leigh et al, 2009).…”

Section: Situs Inversus Totalismentioning

confidence: 99%

Understanding laterality disorders and the left-right organizer: Insights from zebrafish

Forrest

Barricella²,

Pohar³

et al. 2022

Front. Cell Dev. Biol.

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Vital internal organs display a left-right (LR) asymmetric arrangement that is established during embryonic development. Disruption of this LR asymmetry—or laterality—can result in congenital organ malformations. Situs inversus totalis (SIT) is a complete concordant reversal of internal organs that results in a low occurrence of clinical consequences. Situs ambiguous, which gives rise to Heterotaxy syndrome (HTX), is characterized by discordant development and arrangement of organs that is associated with a wide range of birth defects. The leading cause of health problems in HTX patients is a congenital heart malformation. Mutations identified in patients with laterality disorders implicate motile cilia in establishing LR asymmetry. However, the cellular and molecular mechanisms underlying SIT and HTX are not fully understood. In several vertebrates, including mouse, frog and zebrafish, motile cilia located in a “left-right organizer” (LRO) trigger conserved signaling pathways that guide asymmetric organ development. Perturbation of LRO formation and/or function in animal models recapitulates organ malformations observed in SIT and HTX patients. This provides an opportunity to use these models to investigate the embryological origins of laterality disorders. The zebrafish embryo has emerged as an important model for investigating the earliest steps of LRO development. Here, we discuss clinical characteristics of human laterality disorders, and highlight experimental results from zebrafish that provide insights into LRO biology and advance our understanding of human laterality disorders.

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Zur Pathogenese der Bronchiektasien

Cited by 25 publications

References 6 publications

Cytoglobin regulates NO-dependent cilia motility and organ laterality during development

Cytoglobin regulates NO-dependent cilia motility and organ laterality during development

Kartagener’s Syndrome: A Rare Case

Understanding laterality disorders and the left-right organizer: Insights from zebrafish

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