Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough

Pereira, Rute; Barbosa, Telma; Alves, Ângela; Santos, Rosário; Oliveira, Jorge; Sousa, Mário

doi:10.1016/j.advms.2019.10.003

Cited by 4 publications

(2 citation statements)

References 64 publications

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“…Gene CRHR1 (corticotropin releasing hormone receptor 1) encodes for a G-protein coupled receptor, which binds to neuropeptides of the corticotropin-releasing hormone (CRH) family, leading to CRHR1 activation [ 43 ]. CRHR1 has been observed to be downregulated in ciliary cells of a PCD patient, suggesting that CRHR1 could be involved in the ciliary beating [ 44 ]. The KRT34 gene is a type I cuticular Ha4 keratin, representing a subtype of intermediate filaments (IFs), whose associated proteins are expressed primarily in epithelial cells.…”

Section: Discussionmentioning

confidence: 99%

“…It is believed that keratins have functions other than structural support [ 45 ]; however, the specific function of KRT34 remains unclear. Even though there is no direct correlation between KRT34 and spermatozoa, the expression of KRT34 in ciliated cells has already been described in a PCD patient and it was suggested that an upregulation of KRT34 gene may have caused a reduction in its protein expression in ciliated cells [ 44 ]. Here, we report for the first time the association of CRHR1 and KRT34 with sperm immotility, specifically by showing a reduced expression in patients with AZ, corroborating the hypothesis that CRHR1 and KRT34 could be involved in ciliary/flagellar beating.…”

Section: Discussionmentioning

confidence: 99%

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Further Insights on RNA Expression and Sperm Motility

Silva

Viana

Barros

et al. 2022

Genes

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Asthenozoospermia is one of the main causes of male infertility and it is characterized by reduced sperm motility. Several mutations in genes that code for structural or functional constituents of the sperm have already been identified as known causes of asthenozoospermia. In contrast, the role of sperm RNA in regulating sperm motility is still not fully understood. Consequently, here we aim to contribute to the knowledge regarding the expression of sperm RNA, and ultimately, to provide further insights into its relationship with sperm motility. We investigated the expression of a group of mRNAs by using real-time PCR (CATSPER3, CFAP44, CRHR1, HIP1, IQCG KRT34, LRRC6, QRICH2, RSPH6A, SPATA33 and TEKT2) and the highest score corresponding to the target miRNA for each mRNA in asthenozoospermic and normozoospermic individuals. We observed a reduced expression of all mRNAs and miRNAs in asthenozoospermic patients compared to controls, with a more accentuated reduction in patients with progressive sperm motility lower than 15%. Our work provides further insights regarding the role of RNA in regulating sperm motility. Further studies are required to determine how these genes and their corresponding miRNA act regarding sperm motility, particularly KRT34 and CRHR1, which have not previously been seen to play a significant role in regulating sperm motility.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Further Insights on RNA Expression and Sperm Motility

Silva

Viana

Barros

et al. 2022

Genes

Self Cite

View full text Add to dashboard Cite

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Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences

Pereira¹,

Barbosa²,

Cardoso³

et al. 2023

Respiratory Medicine

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Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

Deng

Hong

et al. 2020

Bioscience Reports

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Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in the literature as associating with KS. In the present study, we identified a frame shift mutation, c.167delG (p.G56Dfs*26), in the coiled-coil domain containing 151 gene (CCDC151) responsible for KS in a Han-Chinese family. To our knowledge, this is the first report of a CCDC151 c.167delG mutation in the KS patient. These findings may expand the CCDC151 mutation spectrum of KS, and contribute to future genetic counseling and gene-targeted therapy for this disease.

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Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough

Cited by 4 publications

References 64 publications

Further Insights on RNA Expression and Sperm Motility

Further Insights on RNA Expression and Sperm Motility

Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

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