Genetic+disorder+presentation+notes-+kat

- PKD when there are multiple cysts inside a person's kidenys.. leads to kidney failure, kidney no longer filters toxins out of the blood - genes: PKD1 and PKD2... causes cysts to grow - a mutation in the genes leads to PKD - over the years there are spontaneous mutations - when there are two mutated copies of PKD1 and PKD2 the cysts form in the kidneys, all kidney cells have the mutation. - mutated kidney cells block off new non-mutated kidney cells. - only need to inherit one of the PKD genes from a parent, 10% of cases come from spontaneous mutations - recessive--> need one mutated gene from each parent.
 * Polycystic Kidney Disease**

- comes from a mutation in chromosome 7, gene contains instruction for building a protein called CFTR - regularly lets water and chloride in and out of cell -mutation--> doesn't let chloride in the cell. - mutation causes 3 letters of genetic code to disappear. - makes sweat salty, so body reabsorbs - people have digestive problems b/c CFTR digestive enzymes can't reach intestines - mucous fills up in lungs--> leads to bacteria build up in lungs, hard to breathe - immune system tries to kill bacteria, leads to immune system attacking body - inherited from mother and father, both have to have gene. Recessive disorder! - 1/4 chance child will have disorder
 * Cystic Fibrosis**

- also known as martin bell syndrom, caused by FMR1 gene on X chromosome. - halts neuron development - under microscope, it looks really weird compared ot other people's X chromosome. - symptoms: different for everybody, some may be hyper-active, or hyper- sensitive, distinct features. - x-linked recessive - increases with each generation - no cure, but there is research - can take medication, genetic therapy - can have trouble making connections with other people
 * Fragile X Syndrome**

- cardiovascular system is weak and their aorta gets smaller - symptoms vary among people, chances are rare, 1 in 5000 are born with disorder - recessive disorder, can't diagnose it from DNA - mutation of the fibrillin gene - weakens connective tissues in the body - Abe Lincoln may have had it - a lot of different symptoms: based on manifestation, body build have distinctively long legs and fingers, curved spine, pertruding breast bone. - dominant gene
 * Marfan Syndrome**

- tumors that build up on nerves, can be removed, there is no treatment - NF1 caused by a gene mutation on chromosome 17, NF2- chromosome 22 - Symptoms for NF1- bone abnormality, children have learning disablities - Symptoms for NF2- more in adults, growths on central nervous systems - NF1- chromosome 17 makes a protein called neurofibromin - NF2- chromosome 22 makes a protein called merlin, suppressor protein, so when its mutated there is uncontrollable cell growth. - surgery is hard to remove the growths. - they are inherited the same way--> one mother or father have the mutated gene is passed to child. - dominant gene
 * Neurofibromatosis (NF1, NF2)**

- body stores too much iron, caused by too much iron in the body - traced back to one protein HFE, it regulates iron in body - HFE gene is on chromosome 6 - there is a mutation in the HFE gene - some people with mutation it won't affect them - excess iron that is created gets placed in the lungs symptoms: pain in chest, abdominal pain, can develop diabetes or liver disease - recessive disorder, must get a mutated gene from father and mother -most common disorder in US, 1 in 4 keltic people - blood tests can discover disease, can be treated by blood donations.
 * Hemochromatosis**

- when you get cut, blood flow isn't stop by a clot. CLOTS ARE DISLODGED! - you continue to bleed for days or weeks - clot forms from clotting factors in blood - factor 8 and 9 are what caused the blood to clot, mutations in those factors cause the clots to be dislodged - hemophilia type A is from factor 8: severe hemophilia - mostly in boys because it is from the X chromosome (X-linked!) - treated through injections that add clotting agents to blood - 18,000 people in US have it
 * Hemophilia**

- disease from red blood cells - caused by a mutation in the beta globin - beta and alpha combine to make hemo which combines with oxygen to make red blood cells - red blood cells turn into a banana shape - there is extreme pain because there is no oxygen, pain to spleen and lungs - extreme fatigue - 25% chance child will get it, recessive disease - treatment: bone marrow transfer, very affective!
 * Sickle Cell Disease**

- autosomal recessive disorder, both parents have to be carriers - mutation on chromosome 12, makes enzyme PAH - without enzymes, brain is poisoned - two heterozygous parents have 25% chance child will get it - states require a test of blood 3 days after theyre born. - symptoms: vomiting, musty odor or urine, stunted growth - treatment: blood tests, strict diet, avoid high protein food and artificial flavors.
 * Phenylketonuria**

- weakness in muscles, individual muscle cells die in body - sex linked, x-linked - males get it from mothers, females are carriers - small mutation of X chromosome - proteins are destroyed--> muscles being destroyed - body fat and connective tissues take up the space of muscles
 * Muscular Dystrophy**

- inherited, dominant only need one copy of mutated gene to get it - child has 50% chance of getting - symptoms: mood swings, depressions, loss of memory - no cure, but pills can be taken to curve symptoms - several ways to test for it: DNA tests, family pedigrees, phsyical characteristic testing - kills brain cells
 * Huntington Disease**

- missing a beta globin on chromosome 11 - results in death of red blood cells - turns into severe anemia - complications lead to death before age of 30 - need to catch it early - without treatment, children will grow slowly, spleen is big and have a rat like face. - found more in the east (asia, africa) - treated by regular blood transfusions - transfusion therapy, removal of excess iron
 * Beta-thalassemia**