Genetic+Disease-Faith

__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 to 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 dont have HFE then you have the disease
 * it will not affect some people
 * the excess iron is usaully 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 can develop many disease
 * can be inherited and is recessive
 * and inherite one gene from each parent
 * most commonn disorder
 * can be treated if caught early by blood donations

__Hemophilia__
 * a clot forms then comes out because its weak
 * and the bleeding continues to happen
 * factor 8 and 9 is what causes the blood to clot
 * mutations in it is what causes the disease
 * is mutation from A to T
 * guys get it from their mothers

__Sickle Cell__ caused by mutation it beta globin red blood cells are banana shaped and they make clots in the blood sickle cell anemia has to do with being tired if parent has the S type and combines with another then there is a 25% chance that child is going to get it in each case is a recesssive gene a bone marrow transplant is for treatment and very effective 1 in every 375 black babies will get it and it is inherited

PKU mutation on chromosome 12