Disease+Presentations+Notes+-+RJ

__Tay-Sachs Disease__
 * causes cells to deteriorate (the nerve cells)
 * two proteins
 * there is an activators that binds the proteins
 * HEX A i found in the lysosome cells
 * lysosome is the recycling of the cells
 * The alpha sub unit of HEX A doesnt work right or isnt there
 * the HEX A cannot hold the other protein
 * the protein cannot be broken down and rises in the cell and causes the nerve to swell
 * causes the cells to die
 * is encoded by a gene on chromosome 15
 * about 90 mutations that can cause this
 * Early onset-a child gets it from parents who has the mutated chromosome. The child could end up just being a carried 50% of the time one in every 27 jewish are expected to be carriers

__Polycystic kidney disease__
 * multiple cyst that grow inside the kidney and the kidney fails and nothing is there to filter the toxins out of the blood
 * there are two genes in chromosome 16 and 4 and if mutated causes the cyst to grow
 * everyone has a copy of PKD1 and PKD2
 * a person with a mutation in one of the genes it will develop into the disease
 * if one is mutated the other will usually be mutated
 * every kidney cell has the mutation
 * when both genes are mutated the cyst begin to form
 * blocks kidney cells from filtering the blood
 * only need to inherite one mutation in order for one the PKD genes to be mutated
 * the mutation can happen without neither parent having the mutation

__cystic fibrosis__
 * comes from mutation in gene chromosome 7
 * builds the protein CFTR
 * when there is no mutation and allows water and chloride to come out of cell membrane
 * with mutation doesnt let chloride into the cell at all
 * the mutation causes 3 letters of the genetic code to disappear
 * protein is killed and sweat is saltier and causes body to reabsorb sodium
 * the loss of salty can mess up the heart
 * also have digestive problems
 * a mucus is formed on the cells and affects the lungs with the build up of water and chloride
 * tries to kill own lung cell and people are very prone to infection
 * inherited from the mother and the father and both must have the mutated gene
 * is a recessive disorder

__Fragil X Syndrome__
 * caused of muation on FMR1 gene on the X chromosome
 * symptons are different from everyone
 * have a certian type of face but dnt always have certain physical problems
 * is X linked recessive inherited
 * female carriers have a 50% chance of getting it
 * males can gve it to their daughter but not son
 * there is not a cure
 * hard time making connections with people

__Marfan syndrome__
 * cardiocascular system gets weak
 * certian organs get messed up
 * anyone can get it but 1 and 5,000 people get it
 * people that have it get it from family but cant diagnose it from looking at DNA
 * caused by a mutation in the fibrillin gene
 * watch it to make sure it doesnt get worse

__Hemochromatosis__
 * When the body stores too much iron
 * traced back to protein HFE
 * Normal HFE is on chromosome 6 and encodes the HFE protein
 * there is a mutation in the HFE gene
 * usually regulates the iron
 * IF you don't have HFE then you have the disease
 * It will not affect some people
 * the excess iron is usually stored in lungs and can destroy organs in the body
 * HCC is caused by one mutation in the body a G becomes a T
 * If not caught early, it can develop the disease
 * can be ingerited and is recessive
 * and inherited and is revessive
 * and inherit one gene from each parent
 * Most common disorder
 * Can be treated if caught early by blood donations

__Hemophilia__
 * If you get a cut the clot is supposed to stop the blood from bleeding but instead the clot becomes dislodged and you continue to bleed
 * factor 8 and 9 cause the blood to clot
 * mutations in it is what causes the disease

__PKU__