Detection of cystic fibrosis transmembrane conductance regulator ΔF508 gene mutation using a paper-based nucleic acid hybridization assay and a smartphone camera

(1) Background: Up-regulation of the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) might be of great relevance for the development of therapeutic protocols for cystic fibrosis (CF). MicroRNAs are deeply involved in the regulation of CFTR and scaffolding proteins (such as NHERF1, NHERF2 and Ezrin). (2) Methods: Content of miRNAs and mRNAs was analyzed by RT-qPCR, while the CFTR and NHERF1 production was analyzed by Western blotting. (3) Results: The results here described show that the CFTR scaffolding protein NHERF1 can be up-regulated in bronchial epithelial Calu-3 cells by a peptide-nucleic acid (PNA) targeting miR-335-5p, predicted to bind to the 3′-UTR sequence of the NHERF1 mRNA. Treatment of Calu-3 cells with this PNA (R8-PNA-a335) causes also up-regulation of CFTR. (4) Conclusions: We propose miR-335-5p targeting as a strategy to increase CFTR. While the efficiency of PNA-based targeting of miR-335-5p should be verified as a therapeutic strategy in CF caused by stop-codon mutation of the CFTR gene, this approach might give appreciable results in CF cells carrying other mutations impairing the processing or stability of CFTR protein, supporting its application in personalized therapy for precision medicine.

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A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report

Oman Medical Journal ◽

10.5001/omj.2021.28 ◽

2021 ◽

Vol 36 (2) ◽

pp. e243-e243

Author(s):

Said Al Balushi ◽

Younis Al Balushi ◽

Moza Al Busaidi ◽

Latifa Al Mutawa

Keyword(s):

Cystic Fibrosis ◽

Gene Mutation ◽

Digestive System ◽

The Body ◽

Cystic Fibrosis Gene ◽

Cftr Gene ◽

Sweat Test ◽

Transmembrane Conductance Regulator ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high suspicion of CF. Thus, full CFTR gene sequencing was performed, which revealed a homozygous unreported C.4242+1G>C novel gene mutation. Both parents were found to be heterozygous for this mutation. This case sheds light on the importance of the extensive genetic testing of typical CF cases in the absence of family history or during neonatal presentations, especially when the sweat test cannot be performed and the diagnosis can be challenging.

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Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens

Fertility and Sterility ◽

10.1016/j.fertnstert.2014.01.033 ◽

2014 ◽

Vol 101 (5) ◽

pp. 1255-1260.e1 ◽

Cited By ~ 15

Author(s):

Shaoming Lu ◽

Yanyi Cui ◽

Xiao Li ◽

Haobo Zhang ◽

Jiaolong Liu ◽

...

Keyword(s):

Cystic Fibrosis ◽

Gene Mutation ◽

Intracytoplasmic Sperm Injection ◽

Vas Deferens ◽

Transmembrane Conductance Regulator ◽

Regulator Gene ◽

Transmembrane Conductance ◽

Bilateral Absence ◽

Cystic Fibrosis Transmembrane ◽

Negative Outcome

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A Peptide Nucleic Acid against MicroRNA miR-145-5p Enhances the Expression of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in Calu-3 Cells

Molecules ◽

10.3390/molecules23010071 ◽

2017 ◽

Vol 23 (1) ◽

pp. 71 ◽

Cited By ~ 20

Author(s):

Enrica Fabbri ◽

Anna Tamanini ◽

Tiziana Jakova ◽

Jessica Gasparello ◽

Alex Manicardi ◽

...

Keyword(s):

Cystic Fibrosis ◽

Nucleic Acid ◽

Peptide Nucleic Acid ◽

Transmembrane Conductance Regulator ◽

Transmembrane Conductance ◽

Cystic Fibrosis Transmembrane

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First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis

Qatar Medical Journal ◽

10.5339/qmj.2021.24 ◽

2021 ◽

Vol 2021 (2) ◽

Author(s):

Atqah AbdulWahab ◽

Amal AlNaimi ◽

Basel Habra ◽

Ibrahim Janahi

Keyword(s):

Cystic Fibrosis ◽

Gene Mutation ◽

Arab Countries ◽

Transmembrane Conductance Regulator ◽

Transmembrane Conductance ◽

First Report ◽

Cystic Fibrosis Transmembrane

We report two cases of Qatari children with cystic fibrosis (CF) from different families presenting the homozygous CFTR 1521_1523delCTT (p. Phe508del) mutation with classic CF phenotypes. This gene mutation is considered the second CF mutation identified in Qatar. Herein, we review the frequency and distribution of this mutation in Arab countries.

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