diseases+notes+EP

Tay sacks malfunction of proteins. large molecules are broken down to make nerve membranes. Hex A is either missing or does not work right. cant be broken down making the nerve cell to swell limited repair of nerve cell makes them all die. coded my chromosome 15. 90 mutations of these genes big in the jewish community.

polycystic kidney disease cysts in the kidneys leading to kidney failure. cyst interferes with the kidney function. chromosome 16 and 4 will cause the cyst to grow. every kidney cell has that mutation the whole kidney shuts down

cystic fibroses form chromosome 7. chloride not being able to go through the cell. looses codes in the genes protein is killed if the body is not aware of it. body absorbes sodium messes up the digestive system. affects the lungs

fragile X syndrome the fmr1 gene in the X chromosome. affects the brain. changes behavior.

marfan syndrome cardiovascular system gets weak. organs messing up. its recessive no cure mutation of the gene

neurofibromatosis to much developing on the nerve tissue have tumors. have learning disabilities produces a protein. a suppressor protein.

hemochromatosis stores to much iron. back to proteins. mutations in the gene. it gets taken and put into the cell that regualted the cell cant regualte the iron that is made. stored in the lungs

hemophilia gets clotted but falls out. continously bleeding. blood clots are weak.

sickle cell red blood cells turn into sickle like clot the blood. extreme pain no oxygen

PKU recessive disorder mutations of a single gene on chromosome 12 have a small head and ceasers allergic to alot of things cant eat protein

huntington disease changes in beahvior no cure cause causes abnormal proteins and gives the brain memory loss.

beta thalassemia have a rat like face treated by regular blood