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Cystic fibrosis (CF) is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms.
In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in leading to a truncated, incomplete, and nonfunctional protein product. Nonsense mutation is not always harmful, the functional effect of a nonsense mutation depends on many aspects, such as the location of the stop codon within the coding DNA. For example, the effect of a nonsense mutation depends on the proximity of the nonsense mutation to the original stop codon, and the degree to which functional subdomains of the protein are affected. As nonsense mutations leads to premature termination of polypeptide chains; they are also called chain termination mutations.
Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene.
Pseudomonas aeruginosa is a common encapsulated, gram-negative, aerobic–facultatively anaerobic, rod-shaped bacterium that can cause disease in plants and animals, including humans. A species of considerable medical importance, P. aeruginosa is a multidrug resistant pathogen recognized for its ubiquity, its intrinsically advanced antibiotic resistance mechanisms, and its association with serious illnesses – hospital-acquired infections such as ventilator-associated pneumonia and various sepsis syndromes.
The epithelial sodium channel(ENaC), (also known as amiloride-sensitive sodium channel) is a membrane-bound ion channel that is selectively permeable to sodium ions (Na+). It is assembled as a heterotrimer composed of three homologous subunits α or δ, β, and γ, These subunits are encoded by four genes: SCNN1A, SCNN1B, SCNN1G, and SCNN1D. The ENaC is involved primarily in the reabsorption of sodium ions at the collecting ducts of the kidney's nephrons. In addition to being implicated in diseases where fluid balance across epithelial membranes is perturbed, including pulmonary edema, cystic fibrosis, COPD and COVID-19, proteolyzed forms of ENaC function as the human salt taste receptor.
Surfactant protein A1(SP-A1), also known as Pulmonary surfactant-associated protein A1(PSP-A) is a protein that in humans is encoded by the SFTPA1 gene.
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Surfactant protein A2(SP-A2), also known as Pulmonary surfactant-associated protein A2(PSP-A2) is a protein that in humans is encoded by the SFTPA2 gene.
Brigid L. M. Hogan FRS is a developmental biologist noted for her contributions to mammalian development, stem cell research and transgenic technology and techniques. She is currently a Professor in the Department of Cell Biology at Duke University, Born in the UK, she became an American citizen in 2000.
Pyocyanin (PCN−) is one of the many toxic compounds produced and secreted by the Gram negative bacterium Pseudomonas aeruginosa. Pyocyanin is a blue secondary metabolite, turning red below pH 4.9, with the ability to oxidise and reduce other molecules and therefore kill microbes competing against P. aeruginosa as well as mammalian cells of the lungs which P. aeruginosa has infected during cystic fibrosis. Since pyocyanin is a zwitterion at blood pH, it is easily able to cross the cell membrane. There are three different states in which pyocyanin can exist: oxidized (blue), monovalently reduced (colourless) or divalently reduced (red). Mitochondria play an important role in the cycling of pyocyanin between its redox states. Due to its redox-active properties, pyocyanin generates reactive oxygen species.
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The Roy J. and Lucille A. Carver College of Medicine is the medical school of the University of Iowa, located in Iowa City, Iowa, United States. The first medical college associated with the University of Iowa was founded in 1850, in the small town of Keokuk, Iowa, but the current Iowa City program can trace its roots to 1870. The program became notable as the first co-educational medical school in the United States, and was one of 22 original members of the Association of American Medical Colleges in 1876.
In molecular biology mir-126 is a short non-coding RNA molecule. MicroRNAs function to regulate the expression levels of other genes by several pre- and post-transcription mechanisms.
Robert Williamson is a retired British-Australian molecular biologist who specialised in the mapping, gene identification, and diagnosis of human genetic disorders.
Jane C. Davies is a British physician who is Professor of Paediatric Respirology at Imperial College School of Medicine. She is an Honorary Consultant at the Royal Brompton and Harefield NHS Foundation Trust.
Richard Jude Samulski is an American scientist, inventor, and academic recognized for his pioneering work in gene therapy and adeno-associated virus vectors (AAV) in the fields of molecular virology and pharmacology.
Johanna Rommens is a Canadian geneticist who was on the research team which identified and cloned the CFTR gene, which when mutated, is responsible for causing cystic fibrosis (CF). She later discovered the gene responsible for Shwachman-Diamond syndrome, a rare genetic disorder that causes pancreatic and hematologic problems. She is a Senior Scientist Emeritus at SickKids Research Institute and a Professor in the Department of Molecular Genetics at the University of Toronto.
Batsheva Kerem, is an Israeli geneticist who was on the research team that identified and cloned the CFTR gene, which when mutated, is responsible for causing cystic fibrosis (CF). She later established the Israel National Center for CF Genetic Research. She discovered the most prevalent cystic fibrosis-causing mutations among the Israeli population, allowing for the establishment of nationwide genetic screening programs to identify carriers of these mutations and enabling prenatal diagnoses. She researches how some CF mutations prevent CFTR protein production by causing nonsense-mediated decay and abnormal mRNA splicing, and how therapies might be able to counteract those problems. She also studies the role of genetic instability in cancer. She is currently a professor at the Hebrew University.
Michael James Welsh is an American pulmonologist. He is the current Roy J. Carver Chair in Biomedical Research, the Professor of Internal Medicine in Pulmonary, Critical Care and Occupational Medicine at the Department of Internal Medicine, and the Director of Pappajohn Biomedical Institute, Roy J. and Lucille A. Carver College of Medicine, University of Iowa. He is also a professor at the Department of Neurosurgery, Department of Neurology, and Department of Molecular Physiology and Biophysics. He received the 2022 Shaw Prize in Life science and Medicine, together with Paul A. Negulescu, for their work that uncovered the etiology of cystic fibrosis and developed effective medications.
References
- ↑ "John F Engelhardt". Cystic Fibrosis and Translation Centers. Cystic Fibrosis and Translation Centers. Retrieved 12 December 2016.
- ↑ Li, Z.; Sun, X.; Chen, J.; Liu, X.; Wisely, S. M.; Zhou, Q.; Renard, J. P.; Leno, G. H.; Engelhardt, J. F. (2006). "Cloned Ferrets Produced by Somatic Cell Nuclear Transfer". Developmental Biology. PMC US National Library of Medicine National Institutes of Health. 293 (2): 439–448. doi:10.1016/j.ydbio.2006.02.016. PMC 1892907 . PMID 16584722.
- ↑ "John F. Engelhardt, PhD". American Society of Gene and Cell Therapy. American Society of Gene and Cell Therapy.
- ↑ "John F. Engelhardt, PhD". Anatomy and Cell Biology. University of Iowa.
- ↑ "John F Engelhardt". Cystic Fibrosis and Translation Centers. Cystic Fibrosis and Translation Centers. Retrieved 12 December 2016.
- ↑ "John F Engelhardt". Cystic Fibrosis and Translation Centers. Cystic Fibrosis and Translation Centers. Retrieved 12 December 2016.
- ↑ "Engelhardt named 2019 Fellow of the National Academy of Inventors". University of Iowa Carver College of Medicine. University of Iowa. Retrieved December 5, 2019.