What Diseases Are Genetic?
Genetic diseases are disorders that result from an abnormality in a person's genes. The mutation may range from a slight change in one gene to affecting an entire set of chromosomes. Although there are environmental factors that may cause some diseases, many are due to a person's DNA. In other words, the trait is passed to children by at least one parent. Hereditary disorders are usually evaluated and treated by physicians with backgrounds in genetics. Professional genetics counselors typically assist these geneticists by providing counsel to patients.
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Colon Cancer
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It is normal for our cells to grow and divide in order to maintain our bodies and ensure that our systems function properly. In some people, the processes that oversee the multiplication of cells break down and the growth of cells become uncontrollable. This malfunction is what leads to tumors forming and becoming cancerous.
Colon cancer grows in the cells that form the lining of the colon.
The risk factor for individuals with a family history of colon cancer is greater when compared to the general populace. This is especially true when there is a family member who contracted the cancer before age 50. Two genetic diseases, familial adenomatous polyposis (FAP) and hereditary non-polyposis colon cancer (HNPCC), are sources that lead to the unnatural growth and mutation of certain genes.
Cystic fibrosis
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Diseases that are genetic in nature include cystic fibrosis, or CF. It is a hereditary disorder that affects the respiratory and digestive systems of its victims. Some body tissues have lining that produces a slick water-like material called mucus. Mucus moisturizes the body's organs and is also instrumental in protecting them from infection. CF causes mucus to become thick and sticky and eventually affect the lungs by obstructing the respiratory airways. This condition may lead to infections that can cause substantial damage to the lungs.
Mucus also cause blockages in the ducts and tubes that are located in the pancreas. This prevents the digestive enzymes that are made in the pancreas from traveling to the small intestines where they are needed to break down food. The lack of enzymes interfere with the intestines' ability to assimilate fats and proteins, which may lead to malnutrition as well as vitamin deficiency. CF also causes the body to lose a significant amount of salt when the person sweats.
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Breast cancer
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Only five to ten percent of breast cancer and ovarian cancer cases are associated with a person's hereditary background. These cases emanate from either the BRCA1 (chromosome 17) or BRCA2 (chromosome 13) genes, which gathers broken and mutated chromosomes. Researchers have concluded that BRCA1 and BRCA2 are responsible for repairing malfunctioning DNA. Females who receive these cellular mutations have a higher probability of experiencing chaotic cell growth as well as cancer. In addition, men who carry abnormal genes may contract breast or prostate cancer.
Alzheimer's disease
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Alzheimer's disease causes a person to loss brain functions, such as language, thought and memory. It is also associated with dementia. Alzheimer's occurs when cell debris, plaque and microtubules ( cell support) accumulates on the brain and harms the healthy cells in the area. A gene on chromosome 19, apolipoprotein (apoE) is link to the most prevalent form of the disease, which typically occurs after age 65.
Humans have three types of apoE; however, it is apoE4 that increases the risk factor for people getting Alzheimer's disease. The two other forms are believed to provide protection against Alzheimer. Rarer forms of Alzheimer's disease is connected to abnormal genes found on chromosome 1, 14 and 21.
Sickle Cell Disease
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Sickle cell disease is another disease that is genetic. The body's red blood cells contain a protein called hemoglobin that assist in the distribution of oxygen from the lungs to other areas of the body. The red blood cells usually have a circular shape and are pliable, which enables them to travel uninhibited though the narrow passage of the blood vessels. When a chromosome 11 gene mutates, the hemoglobin molecules cannot develop correctly.
Sickle cell disease is so named because the red blood cells form in the shape of the sickle tool that is used to cut wheat. These concave-shaped red blood cells are very stiff-like, which causes them to become entangled in the blood vessels. This is not only painful, but can also lead to damage of vital organs.
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