Chromosome+19

Chromosome 19

=
Chromosome 19 is one of the 46 human pairs of chromosomes, making up between 2% and 2.5% of the total DNA in cells and containing between 1,300 and 1,700 genes. It has two important proteins. One of them is //APOE// (called apo-epsilon), whose job is to control the meeting of //VLDL// ("delivery truck" of lipoproteins that supplies triglycerides and cholestrol) and a recepter that need triglycerides. The second is //APOB// (called apo-beta) whose job is to do the same thing //APOE// does, but for cholestrol. If these two proteins fail in function, it causes build up of cholestrol and fats, which is what leads to major heart diseases and failure. Also, mutations to this chromosome cause many diseases. Some common ones are Alzheimer's disease, coronary heart disease, and breast cancer. (2) =====

Excerpt From "Genome"
"My genome is my property and not the state's. It is not for the government to decide with whom I may share the contents of my genes. It is not for the government to decide whether I may have the test done. It is for me. There is a terrible, paternalist tendency to think that 'we' must have one policy on this matter, and that government must lay down rules about how much of your own genetic code you may see and whom you may show it to. It is yours, not the government's, and you should always remember that." **(Ridley, M., 1999, pg. 269-270)**
 * //-//** From **//Genome: The Autobiography of a Species in 23 Chapters//**

====** Gene 1- //HAMP// (location: 35,773,409 to base pair 35,776,045 on chromosome 19) ([|HAMP] (3), May 12th, 2012) ([|Hemochromatosis] (4) , May 12th, 2012) **====

[[image:HAMP.jpg]]
==== //HAMP//, or hepcidin antimicrobial peptide, is a gene that gives instruction for the production of protein called hepcidin. According to the GHR (Genetics Home Refeence, "Hepcidin was originally identified as having antimicrobial properties, which refers to the ability of this protein to fight bacterial infections. Researchers have discovered that hepcidin plays a major role in maintaining iron balance in the body. They believe that hepcidin circulates in the blood and inhibits iron absorption by the small intestine when the body's supply of iron is too high. Researchers have proposed that hepcidin production in the liver increases when iron enters liver cells from the blood." **([|Hamp] (5), May 12th, 2012) **==== ====This is basically saying that it has the ability to fight infections and is responsible for maintaining the balance of iron in a person's body. Whenever an iron supply in one's liver is too high or low, this protein goes in and adjusts the levels, making it stable. //HAMP//, the gene that produces this protein, is therefore very important because otherwise, it would lead to out of control levels of iron. Mutations in this gene can lead to hemochromatosis. Hemochromatosis is a disorder that makes the body absorb excess iron from foods. It also hinders the hepcidin proteins ability to maintain iron levels in the body, causing major tissue and organ failure, especially in the skin, heart, liver, pancreas, and joints.====

====** Gene 2- //NOTCH3// (location: 15,270,443 to base pair 15,311,791 on chromosome 19) ([|NOTCH3] (6), May 12th, 2012) ([|CADASIL] (7) , May 12th, 2012) **====

[[image:NOTCH3.jpg]]
==== //NOTCH3,// or neurogenic locus notch homolog protein 3, is a gene that gives instruction for the production of Notch3 receptor proteins. These proteins are located on the surface of muscle cells surrounding blood vessels (vascular smooth muscle cells). According to the GHR (Genetics Home Reference), "The Notch3 receptor protein is specific to arteries, which are blood vessels that carry blood from the heart to the rest of the body. The protein is not present in veins, which return blood to the heart. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the cell. These signals then turn on (activate) particular genes within vascular smooth muscle cells." **([|NOTCH3] (8), May 12th, 2012 ) **==== ====This is saying that Notch3 proteins are vital in the function and survival of vascular smooth muscle cells, which helps maintain healthy muscle cells in the brain's arteries. Mutations in this gene can lead to Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, also called CADASIL. CADASIL is an inherited disease that affects the blood flow in small blood vessels, especially those in the brain. This gradually destroys the surrounding vascular smooth muscle cells. This condition causes the affected people to have strokes and other such conditions. CADASIL, however, is not to be confused with causing common risk factors of a stroke or heart attack, such as high blood pressure or high cholestrol, although some people who have CADASIL do have these health issues.====

[[image:http://www.vaheart.com/wp-content/uploads/2010/11/kawasaki-disease.jpg]]
====The Kawasaki Disease, also called the mucocutaneous lymph node syndrome, is an inherited, non-contagious disease that mostly affect infants and young children. It is the inflammation of blood vessels throughout the body, caused by mutations to Chromosome 19. Affected children can get prolonged fevers lasting up to a couple days and get skin rashes and redding around their mouths, lips, tongues, palms of hands, soles of feet, and in the whiteness of their eyes. They also obtain "swollen lymph nodes in the neck (cervical lymphadenopathy)" **([|Kawasaki Disease] (10), May 12th, 2012 ) **, which is just swelling of your neck's lymph nodes. This disease mostly affects infants and children under the age of 5 years. ==== ==== Commonality of the disease is in the United States alone, almost 4,200 children are diagnosed with this disease. In the United States and other Western countries combined, 1 in every 10,000 children under the age of 5 develop it each year. However, the disease is almost 20x more common in East Asia, specifically Japan, Korea, and Taiwan. According to the GHR ( Genetics Home Reference), "Without treatment, 15 to 25 percent of individuals with Kawasaki disease develop bulging and thinning of the walls of the arteries that supply blood to the heart muscle (coronary artery aneurysms) or other damage to the coronary arteries, which can be life-threatening."**([|Kawasaki Disease] (11), May 12th, 2012 ) ** Although this disease is short term, if not treated, it can prolong itself, becoming very dangerous to a child because it can lead to strokes, heart failure, or an aneurysm, simply due to the damage of the coronary arteries. ====

Interesting Fact
====Kawasaki disease is the leading cause of acquired heart disease in children. Although about 80 percent of patients are under five years of age, older children and teenagers can also get KD, but this is uncommon. KD is more common in boys than girls, and the majority of cases are diagnosed in the winter and early spring. **([|Kawasaki Disease Foundation] (12), May 12th, 2012)**====