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 of a person’s body. Each disease also has a list of symptoms, treatments, and possible preventative tips. Cystic fibrosis is an inherited disease that affects mostly the lungs and digestive track. 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 (Cystic). Ways to test for cystic fibrosis are of course blood test, chest x-ray, CT scan, fecal fat test, lung function test, pancreatic function measurement, secretin simulation test, and many more.
Upon confirming diagnosis, there are several different treatments that a patient may undergo. There are mild to severe treatments in each case of Cystic fibrosis. For CF of the lungs some mild treatments include antibiotics to avoid infections, inhaled medicines or yearly vaccines. While the more severe treatments for CF of the lungs include oxygen therapy or even lung transplants. Treatments for bowel and digestive problems usually include less intrusive procedures, such as special diets, vitamin supplements, and pancreatic enzymes.
There is no way to prevent cystic fibrosis, but it is important to keep a look out for your personal health. Especially knowing if a family has a history of this disease can help future generations from CF. Screenings and detections are possible in all carriers and can help patients become more aware for themselves and their family members. Sickle cell disease, mostly common in people of African American heritage, is a disease in which the blood cells become sickle shaped. The cause of this disease is from a change of nucleotides in the hemoglobin gene (Genetics).
The symptoms of sickle cell are periods of pain occurring in the hands, feet, stomach, back or chest, that occur when the sickled cells become lodged in the blood vessels thus, blocking the blood flow. Sickle cell disease is also referred to “sickle celled anemia” due to the occurrence of anemia in those who have the disease (Topic). Other symptoms include washed out face or jaundiced skin and eyes. Like cystic fibrosis, sickle cell is an inherited disease from gene mutation that a person receives from their parents, so there are no preventative steps.
Sickle cell disease, like cystic fibrosis, is an inherited disease, but for a child to get this particular disease they must obtain two “sickle cell traits,” one from each parent. This disease can be detected as early as birth and treatment can start almost immediately. Daily distribution of antibiotics from two months up to five years is used to reduce infections, along with the stress of yearly vaccines. The biggest part of treating sickle cell is managing the pain (Topic). Tay-Sachs disease is another inherited disease that a person can get from receiving one defective gene from each parent.
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 five. Almost all mutations are recessive genes that will only affect a person if they receive two of the mutated genes, one from each parent (Genetics). All types of mutations affect the nucleotides of a cell, which cause various types of diseases and defects. Some of these diseases caused by mutations include: cystic fibrosis, sickle cell, and Tay-Sachs disease (Genetics).
All of these diseases are inherited diseases, received from their carrier parents, and are in no way preventable but most have means of treatment or at least ways of comforting the affected patient.
Works Cited “Genetics: Mutations and Diseases. ” The New Tech Museum of Innovation. Stanford School of Medicine. 2013. Web. 24 Feb. 2013. “Cystic Fibrosis. ” PubMed Health. A. D. A. M Medical Encyclopedia. 2013. Web. 24 Feb. 2013. “Topic Overview: Sickle Cell Disease. ” WebMD. Healthwise Incorporated. 7 Oct. 2010. Web. 24 Feb 2013. “Tay-Sachs Disease. ” PubMed Health. A. D. A. M Medical Encyclopedia. 2013. Web. 24 Feb. 2012.