Share Sigs Unit 3 Part 1
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How does p53 signaling and senescence interact with aging and progeria?
DNA damage->lamina disrupted->chromatin conformation distress->increase p53 signaling->increase cell/tissue senescence= accelerated aging
What does LMNA code for in and why is it so important in development of progeria?
LMNA codes for Lamina A-protein that acts as scaffolding on the inner side of the nucleus->farnesyl stays on lamina A->piles on=abnormal nuclear envelop
Describe the process that leads to microangiopathic hemolytic anemia (schistocyte formation) in TTP
TTP->ADAMTS13 deficient->cleavage down, increase vWG multimers->hypercoagubale->prothombotic->aggregate->obstruct vessel->sheering RBCS=shistocytes
Describe the process of plasmapheresis
liquid part of the blood, or plasma, is separated from the blood cells. Typically, the plasma is replaced with another solution--> returned to body
Describe the clinical features of TTP
Purpura, Confusion, Arrhythmia, Proeinuria, increase serum indirect bilirubin + LDH, decrease haptoglobin
Contrast the pathogenesis of TTP with that of HUS
HUS: shiga toxin->ADAMTS 13 inhibition->failure to cleave vWF multimers; TTP: ADAMTS13 antibodies/congenital ADAMTS13 mutation->failure to cleave vWF multimers
What are common symptoms of anemia you see in patients with CML?
Anemia -> lower oxygenation of blood->body compensates = pallor, dyspnea, tachycardia
Explain the significance of elevated LDH and Uric acid in the presentation of CML
LDH: high turn over of cells-excess cell lysis; Uric Acid-breakdown of cellular nucleic acid contents of leukemia cells
Describe the genetic pathogenesis of Chronic Myeloid Leukemia
Translocation of chromosome 9 segment onto Chromosome 22-> Philadelphia Chromosome w/ BCR-ABL fusion gene= hematopoeitic stem cell division unregulated
Identify common risk factors for breast cancer
genetics (BRCA1/2, HER2); Demographics (female, older); prolonged estrogen exposure; Previous cancers/radiation; Lifestyle (alcohol, BMI, smoking)
Identify 3 specific gene mutations which can lead to the development of breast cancer
BRCA2: tumor suppressor, chromosome stability; BRCA1: tumor suppressor,DNA damage response/repair; HER2: proto-oncogene, nonregulated tissue growth
Discuss the TNM classification of malignancy and colorectal cancer
T: extent/size of tumor (how far grown in wall colon-mucosa, muscularis properia, suberosa/serosa); N: spread to nearby lymphs; M: metastasis to distant organs
Describe how 5-flurouracil (5-FU) produces its chemotherapeutic effect
Inactive (parent drug)-> metabolized-> metabolites FdUMP block TS=interfere with DNA/RNA/protein formation
why do patients with Ewing sarcoma present with generalized pain?
immune cells trigger inflammation->cytokines->inflammatory markers->activate nociceptors throughout body
What is the characteristic translocation associated with Ewing Sarcoma?
location at the chromosome 22 breakpoint of the t(11;22)(q24;q12) translocation; EWS (EWSR1) gene is involved in translocations in Ewing's sarcoma
Describe the DNA damage that occurs from ultraviolet (UV) radiation and explain how this damage can lead to cancer
UVB causes thymine base pairs to bind to each other->pyrimidine dimers; UVA->ROS=damage DNA repair proteins=cancer
