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DNA Markers in Forensic and Diagnostic Science
Published in Hajiya Mairo Inuwa, Ifeoma Maureen Ezeonu, Charles Oluwaseun Adetunji, Emmanuel Olufemi Ekundayo, Abubakar Gidado, Abdulrazak B. Ibrahim, Benjamin Ewa Ubi, Medical Biotechnology, Biopharmaceutics, Forensic Science and Bioinformatics, 2022
M. Y. Tatfeng, D. E. Agbonlahor, Ifeoma B. Enweani-Nwokelo, Ifeoma M. Ezeonu, Francisca Nwaokorie, E. A. Brisibe, D. Esiobu
This line of research has also uncovered “modifier” genes that can modify the severity of phenotypes associated with mutations in the primary disease-associated gene. Cystic fibrosis was one of such disease which was considered a single-gene disease associated with mutations in the cystic fibrosis-associated gene (CFTR). However, the initial discovery of the CFTR gene preceded the characterization of several additional genes associated with cystic fibrosis and many phenotype-modulating modifier genes associated with mutations in CFTR (Guggino and Stanton, 2006). Cystic fibrosis-associated phenotypes due to mutations in the CFTR gene are in turn modulated by changes in the following genes: bowel obstruction at birth/meconium ileus, gastrointestinal phenotypes and microbial infections (NOS1).
Organoid Technology for Basic Science and Biomedical Research
Published in Hyun Jung Kim, Biomimetic Microengineering, 2020
Szu-Hsien (Sam) Wu, Jihoon Kim, Bon-Kyoung Koo
Cystic fibrosis (CF) is caused by various mutations in the CFTR, with the most commonly occurring mutation worldwide being deletion of phenylalanine at position 508. In most cases, even with medical intervention, patients have a reduced quality of life and a short life expectancy of less than 40 years (Chin, Earlam, and Aaron 2015). Moreover, a significant portion of patients do not respond to the available drugs because of the variability in the mutations causing CF (Ratjen and Döring 2003). Dekkers et al. (2013) used human AdSC-derived intestinal organoids as a platform to develop functional assays for CFTR activity. In brief, treatment with forskolin induces swelling in normal organoids via water influx into the lumen; functional CFTR mediates the influx of water and therefore organoid swelling becomes a readout of CFTR functionality. For organoids with the common mutant version CFTRF508del, forskolin-mediated organoid swelling is compromised. The authors further demonstrated that the functionality of CFTRF508del could be restored through exposure to lower temperatures (27°C) as well as treatment with compounds such as VX-809 and VX-770 (Dekkers et al. 2013). This highlights the potential of organoid cultures to screen for therapeutic interventions that will be efficacious for individual patients.
Nanomedicines for the Treatment of Respiratory Diseases
Published in Sarwar Beg, Mahfoozur Rahman, Md. Abul Barkat, Farhan J. Ahmad, Nanomedicine for the Treatment of Disease, 2019
Brahmeshwar Mishra, Sundeep Chaurasia
In view of the high levels of CFTR expression in glandular cells which play an important role in the composition of mucus hydration and their attributed pathophysiological importance in the progression of cystic fibrosis (Engelhardt et al., 1993), numerous studies have focused on the identification of differences between cystic fibrosis and normal airway secretions (Boat and Cheng, 1980; Roussel et al., 1975; Zhang et al., 1995). Alterations such as increased sulfation and fucosylation and decreased sialytion of secreted mucins have been demonstrated. Biochemical studies also indicated a higher heterogeneity of cystic fibrosis mucin as compared to the normal mucus composition (Chace et al., 1985). However, a molecular treatment option targeting mucin gene expression has not been established so far, and only one study has led to promising results using a myristoylated, alanine-rich C-kinase substrate (MARCKS) protein (Singer et al., 2004). Since not only mucus hyper-secretion but also the deficient channel protein CFTR may be targeted by nanosystems, cystic fibrosis seems to be an ideal candidate for the therapeutic use of such systems.
Compensatory changes in physical activity and sedentary time in children and adolescents with cystic fibrosis
Published in Journal of Sports Sciences, 2019
Kelly A. Mackintosh, Nicola D. Ridgers, Melitta A. McNarry
Cystic fibrosis (CF), currently affecting over 10,000 people in the UK (Cystic Fibrosis Trust, 2017), is the most prevalent inherited genetic disorder in the Caucasian population (Quinton, 1990). CF is a multi-system disease, which primarily affects the lungs and digestive system through mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that lead to malfunctioning or absent CFTR proteins and impaired mucosal clearance mechanisms (Davies, Alton, & Bush, 2007; National Institute for Health and Care Excellence, 2017; Ratjen, 2009). Despite therapeutic advances and an increased life expectancy to 47 years for those born in 2017 (Cystic Fibrosis Trust, 2017), CF remains incurable, highlighting the need to enhance patient well-being.