Researchers at the Temple University School of Medicine, according to the original article, has identified a gene mutation hat could be a key in the mutation of a gene that characterizes inflammation caused by Crohn’s disease. Crohn’s disease is an incurable disease which up to now has no known cause. It is a digestive disorder affecting about 500,000 Americans. Although, scientists and researchers both agree that the disease is regulated by a genetic component and the immune system.
As explained in the original article, the human digestive tract contains bacteria. But, for patients affected with Crohn’s disease, the bacterial infestation in the intestine leads to inflammation, constipation, cramps, and diarrhea. Although not everyone has the same reaction for the disease, scientists and researchers agree that there is a genetic component for the disease. Crohn’s disease is a very painful and debilitating disease usually affecting the lower part of the intestine called the ileum (although all layers of the intestines can be involved). The lining of the organ is extensively inflamed and the affected person is frequently assailed with diarrhea. It runs in the family (genetic component) and affects both men and women.
Crohn’s disease is diagnosed through a series of physical exam and diagnostic tests. Blood tests would reveal anemia which may indicate intestinal bleeding or a high white blood cell count indicating inflammation. A stool sample could indicate bleeding or infection in the intestine. Upper GI series is done to visualize the small intestine. Another way of visualizing the intestine could be by performing sigmoidoscopy or colonoscopy.
A person affected with Crohn’s disease could have complications like intestinal blockage, nutritional complications, arthritis, skin problems, eye or mouth inflammation, gallstones, kidney stones, and diseases of the biliary and kidney. Biological monocular microscopes can be used in studying tissue and cell samples of persons affected with this disease. Aside from the physical properties of the tissue and cell sample, researchers can visualize gene mutation in the specimen being viewed under biological monocular microscopes.
Various genes have been studied to pinpoint an increased vulnerability to Crohn’s disease. The Temple study, according to the original article, also explored the role of genetics as an explanation to the inflammation symptom of the disease. They found out that a mutation of a gene involving kininogen (one of the proteins) causes inflammation. They viewed the tissue samples of rats where they found out the mutation of the gene called Ser511Asn leads to N-glycosulation and as a result increased the cleavage of high molecular weight of the protein kininogen leading to inflammation. Previous studies have also shown that rats deficient of this protein had a milder form of inflammation.
The identification of this gene mutation is vital in order to identify the same gene mutation in humans which would confirm that kininogen has an important role in the disease process of Crohn’s. Identification of the gene mutation, using biological monocular microscopes, is the first step in directing therapy which could modify the effects of this specific protein.
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