Mutation-agnostic treatments such as airway gene therapy have the potential to treat any individual with cystic fibrosis (CF), irrespective of their CF transmembrane conductance regulator (CFTR) gene variants. The aim of this study was to employ two CF rat models, Phe508del and CFTR knockout (KO), to assess the comparative effectiveness of CFTR modulators and lentiviral (LV) vector-mediated gene therapy. Cells were isolated from the tracheas of rats and used to establish air-liquid interface (ALI) cultures. Phe508del rat ALIs were treated with the modulator combination, elexacaftor-tezacaftor-ivacaftor (ETI), and separate groups of Phe508del and KO tracheal epithelial cells were treated with LV-CFTR followed by differentiation at ALI. Ussing chamber measurements were performed to assess CFTR function. ETI-treated Phe508del ALI cultures demonstrated CFTR function that was 59% of wild-type level, while gene-addition therapy restored Phe508del to 68% and KO to 47% of wild-type level, respectively. Our findings show that rat Phe508del-CFTR protein can be successfully rescued with ETI treatment, and that CFTR gene-addition therapy provides significant CFTR correction in Phe508del and KO ALI cultures to levels that were comparable to ETI. These findings highlight the potential of an LV vector-based gene therapy for the treatment of CF lung disease.
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http://dx.doi.org/10.1038/s41434-024-00480-y | DOI Listing |
Cytotherapy
November 2024
Department of Translational and Precision Medicine, University of Rome, Rome, Italy. Electronic address:
Cellular and gene therapy (CGT) products have emerged as a popular approach in regenerative medicine, showing promise in treating various pancreatic and liver diseases in numerous clinical trials. Before these therapies can be tested in human clinical trials, it is essential to evaluate their safety and efficacy in relevant animal models. Such preclinical testing is often required to obtain regulatory approval for investigational new drugs.
View Article and Find Full Text PDFOphthalmol Ther
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.
Introduction: Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in patients with congenital aniridia within the Homburg Aniridia Registry.
View Article and Find Full Text PDFDiscov Oncol
January 2025
Department of Bioscience and Biotechnology, Banasthali Vidyapith, Niwai-Tonk, Rajasthan, 304022, India.
The prominence of circular RNAs (circRNAs) has surged in cancer research due to their distinctive properties and impact on cancer development. This review delves into the role of circRNAs in four key cancer types: colorectal cancer (CRC), gastric cancer (GC), liver cancer (HCC), and lung cancer (LUAD). The focus lies on their potential as cancer biomarkers and drug targets.
View Article and Find Full Text PDFEur J Appl Physiol
January 2025
Department of Exercise Physiology and Sports Therapy, Institute of Sports Science, Justus Liebig University Giessen, Kugelberg 62, 35394, Giessen, Germany.
Purpose: This study investigated elite German athletes to (1) assess their serum 25(OH)D levels and the prevalence of insufficiency, (2) identify key factors influencing serum 25(OH)D levels, and (3) analyze the association between serum 25(OH)D levels and handgrip strength.
Methods: In this cross-sectional study, a total of 474 athletes (231 female), aged 13-39 years (mean 19.3 years), from ten Olympic disciplines were included.
Orphanet J Rare Dis
January 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
Background: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.
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