Cystic Fibrosis (CF) is a hereditary disease that specifically targets the lungs and the digestive system. This disorder causes sickness by disrupting cells that make up sweat glands and the lining of passageways inside the liver, pancreas, lungs and the digestive and reproductive systems. These cells are otherwise known as epithelial cells. Patients suffering from CF inherit a trait that forces the epithelial cells to produce a faulty form of protein called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). The faulty protein results in a lack of regulation of chloride through the cell membrane. Consequently, essential balances between salt and water (two vital ingredients in maintaining the mucous and liquid) are disrupted which causes a thickening of the mucous inside lungs, allowing germs to congregate and infect the sufferer of the disorder (refer to image on right). Cystic fibrosis affecting the pancreas involves a mucous blockage and results in a lack of digestive enzyme secretion. Sufferers of CF inside the pancreas generally have difficulties gaining weight even with a normal appetite and a healthy diet.
Until of late, knowledge of the biochemistry of CF has been severely lacking. Advances in molecular genetics have allowed geneticists to discover that the CF’s loci is coded on chromosome 7. On top of that, a protein known as the CF antigen is coded on chromosome 1. In non sufferers of CF, the products of the two genes interact with each other in a balanced matter to enable normal catabolism. Other discoveries also suggest that the structure of CF antigen possibly regulates ion transport. Another discovery that clarifies the difficulty in examining fetuses at risk of CF is that restriction fragment length polymorphism markers (structures on the chromosome that prevent prediction of gene expression in babies) are closely linked to the CF gene.
Until of late, knowledge of the biochemistry of CF has been severely lacking. Advances in molecular genetics have allowed geneticists to discover that the CF’s loci is coded on chromosome 7. On top of that, a protein known as the CF antigen is coded on chromosome 1. In non sufferers of CF, the products of the two genes interact with each other in a balanced matter to enable normal catabolism. Other discoveries also suggest that the structure of CF antigen possibly regulates ion transport. Another discovery that clarifies the difficulty in examining fetuses at risk of CF is that restriction fragment length polymorphism markers (structures on the chromosome that prevent prediction of gene expression in babies) are closely linked to the CF gene.
Sources:
http://www.annclinlabsci.org/cgi/content/abstract/18/4/289
http://ghr.nlm.nih.gov/condition=cysticfibrosis
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