Cystic Fibrosis Research Paper
When a person is born, their DNA is subject to many different mutations throughout their life. Some of which are inherited from their parents, they develop at birth or during their adulthood. Some of these mutations are harmless and can go unnoticed for your whole existence, while others can alter your health drastically. There are some mutations that are considered to be valuable, as well as a silent one which does not affect you at all. The mutations heard about most often are those that cause disease such as, cystic fibrosis, sickle cell disease, and Tay-Sachs disease (Genetics.) These specific diseases are both devastating and life changing. Each disease is caused by a mutation in different gene and in turn affects different parts
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This disease is caused by a mutation in a gene causing the body to produce excess amounts of mucus, that then builds up and creates difficulty in breathing and digestion (Cystic). Symptoms vary based on the function they affect such as bowels, or lungs and sinuses. Weight loss, fatigue, fever, loss of appetite, shortness of breath, increased gas and bloating, and severe constipation are just a few of the many serious symptoms of cystic fibrosis. Cystic fibrosis can start as early as newborns causing them delayed growth, lack of bowel movements in up to the first 48 hours of life, and salty-tasting skin. High salt levels found in perspiration can be a good indicator of the disease …show more content…
The disease is a mutation of chromosome 15 and cause the body to lack hexosaminidase A, which results in buildup of gangliosides in the nerve cells of the brain (Tay-Sachs). This disease has a number of symptoms that, like cystic fibrosis, range from manageable to very severe. Some symptoms include: irritability, dementia, seizures, paralysis, deafness or blindness. Detection of Tay-Sachs disease starts with the suspicion of your physician. Tay-Sachs disease can be suspected during the first three to ten months of life. The next steps following suspicion include testing, such as enzyme analysis or eye examinations (Tay-Sachs). There, unfortunately, are no treatments for Tay-Sachs disease, there are only means of keeping the patient comfortable. It contracted as an infant, the patient is only suspected to live until age four or
This disease is caused by a mutation in a gene causing the body to produce excess amounts of mucus, that then builds up and creates difficulty in breathing and digestion (Cystic). Symptoms vary based on the function they affect such as bowels, or lungs and sinuses. Weight loss, fatigue, fever, loss of appetite, shortness of breath, increased gas and bloating, and severe constipation are just a few of the many serious symptoms of cystic fibrosis. Cystic fibrosis can start as early as newborns causing them delayed growth, lack of bowel movements in up to the first 48 hours of life, and salty-tasting skin. High salt levels found in perspiration can be a good indicator of the disease …show more content…
The disease is a mutation of chromosome 15 and cause the body to lack hexosaminidase A, which results in buildup of gangliosides in the nerve cells of the brain (Tay-Sachs). This disease has a number of symptoms that, like cystic fibrosis, range from manageable to very severe. Some symptoms include: irritability, dementia, seizures, paralysis, deafness or blindness. Detection of Tay-Sachs disease starts with the suspicion of your physician. Tay-Sachs disease can be suspected during the first three to ten months of life. The next steps following suspicion include testing, such as enzyme analysis or eye examinations (Tay-Sachs). There, unfortunately, are no treatments for Tay-Sachs disease, there are only means of keeping the patient comfortable. It contracted as an infant, the patient is only suspected to live until age four or