CFTR Deletion in Mouse Testis Induces VDAC1 Mediated Inflammatory Pathway Critical for Spermatogenesis

Chen, Yan; Qin, Lei; Liao, Huijuan; Xie, Jiang; Ming, Yang; Sun, Han; Xu, Wenming

doi:10.1371/journal.pone.0158994

Cited by 10 publications

(6 citation statements)

References 35 publications

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“…These findings suggested iPericytes promoters of target genes and can also help stabilize mRNAs and regulate translation. YBX2 is highly expressed in germ cells and its deletion leads to infertility (38,39). YBX2 expression and function in the kidney have not been shown before.…”

Section: Discussionmentioning

confidence: 98%

Methylation in pericytes after acute injury promotes chronic kidney disease

Chou

Pan

Shao

et al. 2020

Journal of Clinical Investigation

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Section: Discussionmentioning

confidence: 98%

Methylation in pericytes after acute injury promotes chronic kidney disease

Chou

Pan

Shao

et al. 2020

Journal of Clinical Investigation

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“…The results of this study support our findings. Previous studies have shown that the CFTR protein participates in spermatogenesis and may result in azoospermia . In addition, the CFTR gene has been described in association with sperm capacitation .…”

Section: Discussionmentioning

confidence: 99%

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Wang

An²,

Liu

et al. 2020

Andrology

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Background Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia. CBAVD is mainly caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene and is also related to the X‐linked ADGRG2 (adhesion G protein‐coupled receptor G2) gene. Genetic screening and counseling strategies for Chinese CBAVD populations remain controversial because the genetic background of CBAVD in Chinese population is largely unknown. Objectives In this study, we aimed to study the mutation spectrum of CFTR and ADGRG2 in a group of CBAVD patients and to evaluate sperm retrieval outcomes in a subset of CBAVD patients. Materials and methods Next‐generation targeted sequencing was used to identify mutations in the CFTR and ADGRG2 genes in 38 CBAVD patients. In addition, we followed and analyzed nine of the 38 patients who were undergoing sperm retrieval surgery. Results In total, 27 of 38 (71.05%) patients carried at least one likely pathogenic or pathogenic mutation in CFTR or ADGRG2. In addition to the IVS9‐5T allele, 15 CFTR and 1 ADGRG2 mutations were identified, including 4 novel mutations. CFTR hot‐spot mutations were not identified in our study. Spermatozoon was successfully obtained in all nine patients who underwent MESA or TESE surgery, but most patients had spermatozoa with relatively low motility and high abnormality rates. Discussion and conclusion Except for the IVS9‐5T allele, hot‐spot mutations of CFTR may not exist in Chinese CBAVD patients. Therefore, next‐generation targeted sequencing for whole CFTR and ADGRG2 gene may be the appropriate genetic testing method, and genetic counseling may be different from Caucasian populations. We observed a high success rate of sperm retrieval with relatively low motility and high abnormality rates in Chinese CBAVD patients. However, this is only a weak conclusion due to the small sample size.

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“…These results indicate that the CFTR mutation confers a pro-inflammatory status to airway epithelia. Further support for this notion is given by recent studies showing that knockdown of CFTR increases the expression of NF-κB [ 139 ] and cytokines [ 140 ].…”

Section: Cystic Fibrosis Transmembrane Conductance Regulator (Cftrmentioning

confidence: 90%

Role of IRE1α/XBP-1 in Cystic Fibrosis Airway Inflammation

Ribeiro

Lubamba

2017

IJMS

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Cystic fibrosis (CF) pulmonary disease is characterized by chronic airway infection and inflammation. The infectious and inflamed CF airway environment impacts on the innate defense of airway epithelia and airway macrophages. The CF airway milieu induces an adaptation in these cells characterized by increased basal inflammation and a robust inflammatory response to inflammatory mediators. Recent studies have indicated that these responses depend on activation of the unfolded protein response (UPR). This review discusses the contribution of airway epithelia and airway macrophages to CF airway inflammatory responses and specifically highlights the functional importance of the UPR pathway mediated by IRE1/XBP-1 in these processes. These findings suggest that targeting the IRE1/XBP-1 UPR pathway may be a therapeutic strategy for CF airway disease.

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CFTR Deletion in Mouse Testis Induces VDAC1 Mediated Inflammatory Pathway Critical for Spermatogenesis

Cited by 10 publications

References 35 publications

Methylation in pericytes after acute injury promotes chronic kidney disease

Methylation in pericytes after acute injury promotes chronic kidney disease

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Role of IRE1α/XBP-1 in Cystic Fibrosis Airway Inflammation

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