Disease+Presentation+Notes+CC

-activator binds alpha and beta subunits -lysosomes-recycling plant of cells -alpha sub unit of hex A does not work right or is missing -can't be broken down, so it accumulates in the cell, causing the nerve cell to swell -about 90 mutations of this gene that can cause tay-sachs -deletion -early on set and let on set of Tay Sachs -if both mom and dad gene have tay sachs then the child will have it.
 * Tay Sachs**- nerve cells deteriorate and die

comes from a mutation in a gene from chromosome 7 CFTR no chloride in to the cell at all with mutation when body sees there is a faulty protein on the membrane the body reacts in killing cells on the membrane, resulting in protein being killed, making sweat saltier, causing the body to re absorb sodium -digestive problems -mostly affects lungs and very prone to infection -antibiotics are used
 * Cystic Fibrosis**

caused by the mutation of a on the X chromosome effects development of neuron connection in the brain X linked recessive inheritance female carriers have a 50 % chance of giving it to their kids men can give it to their daughters but not their sons no cure, but research being done for it more common and severe in boys
 * Fragile X**

cardio is weak and aorta can get smaller eyes and other organs messing up anyone can get it, but it is pretty rare 1/5000 have it recessive, from family mutation of the fibrillin gene
 * Marfan Syndrome**

NF1 and NF2 surgery to remove tumors NF1 in children NF 2 in adults tumors on your nerves paralyzed
 * neurofibromatosis**

body stores too much iron can be traced back to one protein (HFE) chromosome 6 some people are not affected by it excess iron is usually stored in your lungs and can cause damage and damage multiple organs of the body inherited disease determined by blood tests and can be treated if caught early on
 * Hemochromatosis**

if you get a cut, the clot forms but then falls out not supposed to get shot treated through injections
 * Hemophilia**

recessive bone marrow transplant 3 different types mutation in betaglobin common in african american cultures
 * Sickle Cell Disease**

without enzyme it builds up in the boy and poisons enzymes in brain recessive disorder both parents must carry gene for it to be passed on small head PKU doctors recommend blood tests, strict diet
 * Phenylketonuria**

Weaknesses in muscle because individual muscle cells die sex linked boys can get it and girls are only carriers deletion- only half of the gene is made, which shortens the gene and leaves the gene without some of its proteins "stop" body fat and connective tissue takes up the spaces
 * Muscular Dystrophy**

not contagious dominant child has 50 % chance of getting it if parent has it mood swings, irritability, depression, loss of memory, uncontrollable movements, etc no cure larger gene produces unusual proteins eventually results in death of person
 * Huntingtons**

betaglobin is missing, resulting in death of most red blood cells severe anemia children grow slowly thalassemia is most common in world, and beta is most common among the different kinds of thalassemia removal of excess iron
 * Beta-thalassemia**