scholarly journals Cystic Fibrosis - Related Diabetes

2021 ◽  
Vol 11 (6) ◽  
pp. 42-46
Author(s):  
Marcin Makuch ◽  
Marcelina Makuch
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Glucose Tolerance Test ◽  
Autosomal Recessive Disease ◽  
Tolerance Test ◽  
Oral Glucose ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Regulator Protein ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is life-shortening autosomal recessive disease, caused by mutations in the cystic fibrosis transmembrane conductance regulator protein. The most common of CF complications is cystic fibrosis-related diabetes (CFRD). The pathophysiology of CFRD is complex. The best test for screening and diagnosis of CFRD is the oral glucose tolerance test (OGTT). Insulin therapy is a treatment of choice in CFDR pharmacotherapy. An inseparable element of CFRD therapy is also physical activity and diet.

Micro-gallbladder: A rare surgical problem

2021 ◽  
pp. 004947552199818
Author(s):  
Uttam Kumar Thakur ◽  
Niladri Mohan Raypattanaik ◽  
Manish Kumar ◽  
Cherring Tandup ◽  
Lileswar Kaman
Keyword(s):  
Cystic Fibrosis ◽  
Laparoscopic Cholecystectomy ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Gallstone Formation ◽  
Definitive Treatment ◽  
Transmembrane Conductance Regulator ◽  
Rare Clinical Entity ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

Micro-gallbladder is a rare clinical entity and mostly linked with cystic fibrosis (CF), which is an autosomal recessive disease involving a protein Cystic fibrosis transmembrane conductance regulator (CFTR) which regulates secretion and absorption in the pulmonary, reproductive and gastrointestinal systems including the liver. Biliary secretion becomes hyperviscous, leading to cholestasis and partial obstruction of the cystic duct. This causes recurrent cholecystitis and gallstone formation. Ultimately, atrophy of the gallbladder results, thus a ‘micro-gallbladder’ defined as being <2–3 cm in length and 0.5–1.5 cm in width. A shrunken gallbladder from recurrent attacks of gallstone-induced cholecystitis is not typically termed as a micro-gallbladder. Laparoscopic cholecystectomy is definitive treatment for symptomatic micro-gallbladder, even though most cases are managed conservatively without surgery. We report a case of symptomatic micro-gallbladder in a non-CF patient, managed successfully by laparoscopic cholecystectomy.

scholarly journals The Future of CRISPR: Looking at Gene Editing as a Treatment For Cystic Fibrosis

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Harisha Kosanam ◽  
Ananya Udyaver ◽  
Waliya Muhammad
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Gene Editing ◽  
Autosomal Recessive Disease ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Internal Organs ◽  
Cftr Protein ◽  
Cystic Fibrosis Transmembrane ◽  
Cftr Modulators

Cystic Fibrosis (CF) is a genetically inherited chronic disease that causes the production of a thick and sticky mucus primarily in the lungs. The condition tends to become worse over time. Clogged lungs and other internal organs result in breathing issues, susceptibility to infections, digestive problems, and lack of nutrition. CF is an autosomal recessive disease, indicating that an individual must inherit two copies of the defective Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which then encodes for a malfunctioning CFTR protein. Because of the large number of CF patients that cannot be treated with these CFTR modulators, using gene editing to directly target the mutation can be more effective and efficient in treating cystic fibrosis. In this paper, we will discuss the promises and limitations for using gene editing as a treatment for CF.

Characterizing diverse orthologues of the cystic fibrosis transmembrane conductance regulator protein for structural studies

2015 ◽  
Vol 43 (5) ◽  
pp. 894-900 ◽  
Author(s):  
Naomi L. Pollock ◽  
Tracy L. Rimington ◽  
Robert C. Ford
Keyword(s):  
Cystic Fibrosis ◽  
Structural Data ◽  
Transmembrane Conductance Regulator ◽  
Loss Of Function ◽  
Transmembrane Conductance ◽  
Functional Studies ◽  
Regulator Protein ◽  
Organ Systems ◽  
Cftr Protein ◽  
Cystic Fibrosis Transmembrane

As an ion channel, the cystic fibrosis transmembrane conductance regulator (CFTR) protein occupies a unique niche within the ABC family. Orthologues of CFTR are extant throughout the animal kingdom from sharks to platypods to sheep, where the osmoregulatory function of the protein has been applied to differing lifestyles and diverse organ systems. In humans, loss-of-function mutations to CFTR cause the disease cystic fibrosis, which is a significant health burden in populations of white European descent. Orthologue screening has proved fruitful in the pursuit of high-resolution structural data for several membrane proteins, and we have applied some of the princples developed in previous studies to the expression and purification of CFTR. We have overexpressed this protein, along with evolutionarily diverse orthologues, in Saccharomyces cerevisiae and developed a purification to isolate it in quantities sufficient for structural and functional studies.

scholarly journals Cystic Fibrosis Transmembrane Conductance Regulator Protein (CFTR) Expression in the Developing Human Brain

2014 ◽  
Vol 62 (11) ◽  
pp. 791-801 ◽  
Author(s):  
Pascale Marcorelles ◽  
Gaëlle Friocourt ◽  
Arnaud Uguen ◽  
Françoise Ledé ◽  
Claude Férec ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Human Brain ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Regulator Protein ◽  
Cystic Fibrosis Transmembrane
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