Genetic Disorder: Gene therapy technique


Genetic Disorder: Gene therapy technique

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Journal of Genetic Syndromes & Gene Therapy has NLM ID: 101574143: Index Copernicus Value 2016: 84.15

Cystic fibrosis

Cystic fibrosis (CF) is an inherited disease that affects the secretory glands, including the mucus and sweat glands. Cystic fibrosis mostly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.CF is due to a mutation in the CF gene on chromosome 7. The CF gene encodes a protein known as the cystic fibrosis trans membrane regulator (CFTR). The abnormal CFTR protein in patients with CF leads to disruption of chloride channels on the cells.

CF is characterized by the production of abnormal mucus that is excessively thick and sticky. The abnormal mucus leads to blockages within the lungs and airways. This leads to repeated, serious lung infections that can damage the lungs. Lung function often starts to decline in early childhood in people who have cystic fibrosis. Over time, permanent damage to the lungs can cause severe breathing problems.

The thick, sticky mucus also can block tubes, or ducts, in the pancreas. As a result, the digestive enzymes from the pancreas can't reach the small intestine, causing impaired absorption of fats and proteins. This can cause vitamin deficiency and malnutrition.

Best Regards

Christiane Zweier

Journal co-ordinator

Journal of Genetic Syndromes & Gene Therapy