Disease+Notes+KR

=Keaton Rye=

Wiki Notes on Diseases

 * 1) Tay-Sachs
 * 2) Caused by a malfunction of a protien
 * 3) found in nerve cells
 * 4) Activator brings the GM2 molecule to the lysomose where it binds the alpha and beta substances
 * 5) People with Tay-Sachs there alpha sub unit does not work right
 * 6) no new membranes in the cell can be produced
 * 7) causes the cells to die
 * 8) 90 mutations of this disease that can cause Tay-Sachs
 * 9) 2 parents need the mutated chromosome
 * 10) one in every 27 Jewish people are carriers
 * 11) babies die at age 5
 * 12) Polytheistic Kidney Disease
 * 13) 2 genes that need to be mutated
 * 14) If one gene is mutated then the other one gets mutated as well.
 * 15) Only 1 PKD gene is needed to be passed on.
 * 16) Cystic Fibrosis
 * 17) Found in the cell membrane
 * 18) mutations causes 3 letters of the gentic code to disappear, and this results in protein being killed.
 * 19) Makes your sweat saltyer
 * 20) when the sweat is to salty it causes the body to absorb sodium, which may mess up the hearts rythem
 * 21) CFTR enzymes dont reach the intestines, which messes up the digestive system
 * 22) it is a recessive disorder
 * 23) If both parents are carriers it is a 1/4 chance of there child getting it
 * 24) Antibiotics are used to treat it
 * 25) Lung transplants are also possible
 * 26) Fragile X syndrome
 * 27) caused by a mutation in the FMR1 gene on the X chromosome
 * 28) called fragile X cause it looks weird under the microscope
 * 29) people with this mutation have over 230 repeats
 * 30) various symptoms
 * 31) X linked recessive inheritance
 * 32) females that are carriers have 50% chance of giving it there kids
 * 33) Transmission increases with each generation
 * 34) no cure yet
 * 35) Take education classes
 * 36) U can have strange behaviors
 * 37) trouble making connections with people
 * 38) Marfan Syndrome
 * 39) biggest problem, is cardiovascular can get to weak to function
 * 40) symptoms can varry among people
 * 41) 1 in 5000 are born with the disorder
 * 42) DOMINANT disorder
 * 43) Can't diagnosis using DNA
 * 44) Mutation from the Fibrillin gene
 * 45) no cure either
 * 46) Abrahan Lincoln might have it
 * 47) NF1 or NF 2
 * 48) NF1 is in children
 * 49) NF2 is in adults
 * 50) on chromosome 17,22
 * 51) causes tumors in your nerves
 * 52) hard to get rid of because the surgery is complicated
 * 53) mutations affect the fore brain, nervous tissue and muscle tissue
 * 54) NF2 produces a protein called merlin
 * 55) if one mother or father have it, they can pass it on to the child
 * 56) most people dont get surgery
 * 57) Hemophilia
 * 58) if you get a cut with hemophilia then the blood vessel does not heal
 * 59) the clot forms but it falls out and u continue to bleed.
 * 60) Factor 8 gets mutated A to T and does not fit in the clot so the blood does not clot
 * 61) in sever hemophilia factor 8 is missing
 * 62) it is treated through injections that add clotting agents to your blood
 * 63) but people with hemophilia cannot get shots
 * 64) 18,000 people in the united states have hemophilia
 * 65) Sickle Cell
 * 66) 3 different types
 * 67) All caused by the mutation in the betaglobin
 * 68) The BG bonded with the AG create a HG and that heme is what bonds with oxygen and creates the round shape of the cells for normal ppl
 * 69) all the hemoglobins bond together and the red blood cells create the sickle cells
 * 70) extreme pain
 * 71) stroke
 * 72) bone marrow transplant for treatment
 * 73) it is recessive
 * 74) 1 in every 375 African American babies get it
 * 75) all inherited
 * 76) PKU
 * 77) recessive disorder
 * 78) mutation of a single gene on CHromosome 12 causes PKU
 * 79) pension's the neurons in the brain
 * 80) 25% chance of having a child with both parents with the disorder
 * 81) children with PKU may only eat certain things
 * 82) Muscular Dystrophy
 * 83) a weakness in the muscles
 * 84) sex linked disorder
 * 85) boys only get it
 * 86) females are only carriers
 * 87) small mutaition of the X chromosome
 * 88) when the part is taken out, only have of the gene is made, which shortens the gene
 * 89) body fat takes up the spaces
 * 90) Huntington's
 * 91) inherited disorder
 * 92) dominant
 * 93) a child has a 50% chance of inheriting the disease
 * 94) Symptoms - mood swings irritability, depression exc..
 * 95) no cure, but pills can be taken
 * 96) 1 in every 20,000 are born with it
 * 97) DNA testing can test for it
 * 98) larger gene produces abnormal proteins which attack the brain cells, resulting in memory loss
 * 99) Beta-Thalassemia
 * 100) missing a beta-globin
 * 101) chromosome 11
 * 102) Results in the death of lots of red blood cells
 * 103) untreated results in death before the age of 30
 * 104) 4-6 months of age can be treated
 * 105) without treatment children grow slowley and form a rat like face
 * 106) very common
 * 107) found in people in the east
 * 108) high as 1-10 in some areas
 * 109) only 2 million people have it in the US
 * 110) treated by blood transfusions