Exam 2 Correlation Boxes Flashcards

Question

Fragile X Mental Retardation Syndrome

Answer 1

Gene encodes a protein involved in neurologic function CGG expansion --> cytosine methylation --> region extends into promoter area --> transcription turned off Gene is silent (even though triplet expansion occurs upstream of protein-coding region)

Answer 2

Encodes a protein involved in neurologic function DNA sequence contains 30 repeats of CGG Mutated DNA sequence contains >200 repeats of CGG

Answer 3

Made in pancreatic beta cells (single polypeptide w/104 AA's)

Answer 4

Inside cell: some lysines on precollagen --> 5-hydroxylysines --> some glycosylated w/gal & glc Outside cell: some lysines/hydroxylysines oxidatively deaminated to aldehydic residues, some prolines on procollagen hydroxylated --> 4- & 3-hydroxyprolines Essential to assembly/cross-linking of collagen helices Need ascorbic acid

Answer 5

Contains two peptides of 30 & 21 residues linked by 2 disulfide linkages Stored in beta granules as Zn-bound hexamer until secretion Produced/released in equimolar amounts to C peptide

Answer 6

Produced/released in equimolar amounts to mature insulin Immunoassay to assess pancreatic beta cell function (particularly in patients w/circulating anti-insulin antibodies) Distinguish b/w hypoglycemic disorders due to islet cell tumors & facetious hypoglycemia

Answer 7

Due to overproduction of insulin | Cause hypoglycemic disorders

Answer 8

Due to exogenous insulin infusion

Answer 9

Most abundant structural protein in vertebrates

Answer 10

Part of PT collagen modification, needs ascorbic acid Mutations --> skin/bone/joint disorders (Ehlers-Danlos syndrome type VI, Nevo syndrome, Bruck syndrome type 2, epidermolysis bullosa simplex)

Answer 11

Part of PT collagen modification, needs ascorbic acid

Answer 12

Allows determination of the number, size & gross structure of metaphase chromosomes Traditional gold standard cytogenetic method in identifying chromosomal abnormalities ass w/genetic disorders Does not provide info at molecular level

Answer 13

Involve large segments of DNA (millions of bp's) | 4 types: inversion, deletion, duplication, translocation

Answer 14

Process by which a diploid (2N) germline cell divides into haploid (1N) gametes Occurs in 2 stages

Answer 15

Type of chromosomal mutation in which a segment of chromosomal DNA is present in its reverse orientation

Answer 16

Type of chromosomal mutation in which a segment of chromosomal DNA is lost

Answer 17

Type of chromosomal mutation in which a segment of chromosomal DNA is copied, resulting in amplification of genes contained in that region

Answer 18

Type of chromosomal mutation in which two different chromosomes exchange segments of their DNA Can be either balanced or unbalanced

Answer 19

Type of chromosomal mutation in which resultant hybrid chromosomes are similar in length to their normal counterparts

Answer 20

Type of chromosomal mutation in which resultant hybrid chromosomes are dissimilar in length to their normal counterparts

Answer 21

Process by which a diploid (2N) somatic cell divides to produce 2 identical daughter cells, each of which also contains 2N amounts of DNA

Answer 22

Following interphase, chromosomes divide as in mitosis During prophase, duplicated homologous chromosomes pair up to form a bivalent (which has 4 chromatids, 1 for each chromosome), allowing homologous recombination Cell division proceeds to generate 2 daughter cells (each has 1 unmodified parental chromosome and one recombinant chromosome)

Answer 23

Exchanging of fragments of maternal and paternal chromatids Occurs in Meiosis I Leads to genetic variation

Answer 24

Structure with 4 chromatids, 1 for each chromosome | Formed during prophase I when duplicated homologous chromosomes pair up to allow homologous recombination

Answer 25

Sister chromatids in each cell separate to produce 4 gametes (each with 1N amount of DNA) Does not involve any further DNA synthesis

Answer 26

Phenomenon when an individual receives 2 copies of a chromosome or part of a chromosome from 1 parent and no copies from the other parent May occur as a random error in meiosis during the formation of egg or sperm cells or in early fetal development Often asymptomatic because the individual has at least one copy of each gene If in imprinted genes, there may be delayed development, mental retardation, and other medical issues (most well known is Prader-Willi syndrome w/chromosome 15)

Answer 27

Condition in which cells from an individual who has developed from a single fertilized egg have different genotypes Caused by an error in cell division early in embryonic life Percentage of normal to abnormal cells determines disease severity/symptoms/treatment, high %age mosaicism results in similar presentation to typical nonmosaic form of disease Diagnosed with chromosomal or microarray analysis Ex: Down, Klinefelter, & Turner syndrome

Answer 28

Involves the imprinting gene on the long arm of chromosome 15 Paternal gene is silenced Dysfunction leads to uncontrolled eating and obesity

Answer 29

chromosome 21 trisomy in a %age of cells

Answer 30

some cells are normal/46XY, some have an extra chromosome/47XXY

Answer 31

some cells are normal/46XX, some have a missing chromosome/45XO

Answer 32

Caused by defects in assembly of 14-sugar oligosaccharide on phosphorylated dolichol (Type I) or in processing of to complex types of glycoproteins in Golgi (Type II) 1a (70%) caused by phosphomannomutase defect 1b caused by phosphomannose isomerase defect

Answer 33

Phosphomannomutase defect (mannose-6P --> mannose-1P) --> defective assembly of 14-sugar oligosaccharide on phosphorylated dolichol

Answer 34

Phosphomannose isomerase defect (fructose-6P --> mannose-6P) --> defective assembly of 14-sugar oligosaccharide on phosphorylated dolichol

Answer 35

Essential for lysyl and prolyl hydroxylase activity

Answer 36

Resting mammalian cells in the G1 phase: DNA content of 2N S phase: DNA content varies b/w 2N & 4N G2 & M phase: DNA content doubled to 4N After cytokinesis: back to 2N

Answer 37

regulated mechanism to degrade transiently expressed cyclin proteins in order terminate activity of cyclin-CDK complexes cyclins targeted by polyubiquitination

Answer 38

Mutant forms of mammalian RAS (or its GEFs & GAPs) have been implicated on a wide range of cancers (30-50% of lung/colon cancers, 90% pancreatic cancers) Point mutations decrease intrinsic GTPase activity-> lock in active/GTP-bound state Ex- neurofibromatosis (NF-1 gene encodes a GAP for RAS)

Answer 39

Discovered through examination of microdeletions in chromosome 13 in individuals with retinoblastoma Hereditary form: 1 copy of gene mutated or lost in every cell & cells become predisposed to cancer (if good second copy is damaged by mutation, cells lose control of G1 checkpoint) Nonhereditary form: cancerous cells contain different somatic mutations in both copies of the RB gene

Answer 40

SH2 or PTB domains on adaptor proteins that recognize and bind to receptor motifs that have phosphorylated Tyr residues Ex- GRB-2, IRS-1

Answer 41

Transduce signals from plasma membrane receptors -> effector proteins (ex- kinases) Intrinsic GTPase activity (mutations lead to cancer) Control cell prolif, intracellular vesicular traffic, survival/apoptosis, cell shape/polarity, membrane transport, secretion Monomeric RAS superfamily w/>150 members, 20-25 kDa Subfamilies: RAS, RAB, RHO, ARF, RAN

Answer 42

Caused by Rous sarcoma retrovirus (RSV) | Transforming factor: v-src (Tyr kinase, oncogenic form of normal host Porto-oncogene c-SRC)

Answer 43

Type of aging in somatic cell cultures Due to progressive shortening of telomeres w/each cell division (especially if cells lack telomerase)-> DNA damage--> p53-mediated cell cycle arrest at G1 checkpoint Ex- human skin fibroblasts in cell culture stop dividing after 30-50 population doublings, even when abundant growth factors are present in the culture medium

Answer 44

contain 23 chromosomes (unpaired) haploid also known as gametes

Answer 45

catalyze targeting of cyclins for proteolysis | ubiquitinate CKIs to target for degradation, releasing the inhibition of S phase cyclin-CDK complexes

Answer 46

More than 50% of all cancers exhibit mutations in p53 Examples of failed p53 activation: Li-Fraumeni syndrome, ataxia telangiectasia Metabolic activation of benzo(a)pyrene--> potent mutagen Activated benzopyrene & Aflatoxin--> p53 mutations by G->T transversions

Answer 47

fungal metabolite present as contaminant in moldy grain & peanuts induces G->T transversions in p53 carcinogen (mutation caused leads to cancer)

Answer 48

example of failed p53 activation due to gene mutation

Answer 49

example of failed p53 activation due to gene mutation

Answer 50

childhood disease of retinal development unchecked division of precursor cells in immature retina--> tumor development Incidence Rate: 1/20,000 Hereditary form: affects BOTH eyes Nonhereditary form: affects only affects one eye

Answer 51

needed to maintain telomeres | Preserves their length & protects from damage by promoting end cap structures

Answer 52

Condition marked by growth of tumors by nerve tissue Caused by an inactivation in neurofibromin (NF-1) gene (encodes GTPase-activating protein (GAP) for RAS Absence of NF-1 --> RAS allowed to uncontrollably activate pathways that promote nerve tissue growth

Answer 53

leads to p53-mediated cell cycle arrest at G1 checkpoint involved in replicative cell senescence could be mediated by accumulation of reactive oxygen species (ROS)

Answer 54

Tyr kinase, oncogenic form of normal host Porto-oncogene c-SRC Transforming factor in RSV Causes fibrosarcoma in chickens

Answer 55

immunosuppressive protein secreted by trophoblast to prevent rejection of embryo measured by expensive, early pregnancy tests

Answer 56

initial pregnancy signal secreted from syncytiotrophoblast | measured by OTC pregnancy tests

Answer 57

Tumor in uterus caused by fertilization of empty or normal oocyte by 2 sperm Can lead to choriocarcinoma Symptoms: vaginal bleeding, pelvic pressure/pain, enlarged uterus, hyperemesis gravidarum

Answer 58

Malignant tumor formed from hypatidiform mole that can spread to lungs, vagina, bone, brain, liver, & intestines

Answer 59

Assisted reproductive technology in which administered hormones stimulate ovulation, egg is fertilized in petri dish, & cells are implanted back in uterus as early blastocysts Other cells can be frozen

Answer 60

Assisted reproductive technology in which fertilized eggs are frozen between 8-cell and blastocyst stage

Answer 61

Assisted reproductive technology in which sperm are injected into egg & the blastocyst is implanted back in uterus after 1 week

Answer 62

Embryo implants somewhere besides the uterus (usually uterine tubes) Symptoms: normal hCG, cramping/pain Increased risk of hemorrhage

Answer 63

Placenta covers all or part of cervix opening | Vaginal bleeding after 20 wks gestations

Answer 64

Mass of all 3 germ layers | May be remnant of primitive streak or due to abnormal migration of germ cells

Answer 65

Rare, slow-growing, aggressive neoplasms of bone in axial skeleton (sacral ragions & spheno-occipital region of skull) Arise from notochord remains

Answer 66

Results from mutation in FoxP2 (under positive selection) | Fox genes regulate cell growth/prolif/diff/longevity

Answer 67

Results from absence of iris due to mutation in Pax6 (makes protein for eyes, CNS, & pancreas

Answer 68

Proteins that play role in formation of all body segments | Absence--> headless embryos

Answer 69

Overexpression leads to premature fusion of skull joints and unnatural brain growth (craniosynostosis) Genes that inhibit cell diff prenatally and promote tissue proliferation and face/limb formation postnatally

Answer 70

premature fusion of skull joints that prevents natural brain growth due to overexpression of Msx genes

Answer 71

Results from mutation in Sox9, affecting skeleton, reproductive system, resp sys, & face Symptoms: short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs, neck bone abnormalities, clubfeet, ambiguous genitalia, & softened resp cartilage

Answer 72

Desert Hedgehog ligand-receptor complex that can cause partial gonadal dysgenesis and polyneuropathy

Answer 73

Retinoid that leads to increased levels of retinoic acid, causing Hox overexpression and leading to birth defects in CNS & axial skeleton (b/w 2nd & 5th week of gestation) Used to treat severe acne

Answer 74

Results from mutations in PTCH receptor for SHH that cause uncontrolled SMO activity (cell growth/rep)

Answer 75

Utilizes indirect ELISA (detects HIV antibodies) and PCR (uses reverse transcriptase to detect viral RNA) Need multiple forms of testing b/c indirect ELISA gives many false pos/neg results

Answer 76

Utilizes sandwich ELISA (detects troponin antigen isoforms) | Troponin I & T inc week after AMI

Answer 77

Utilizes sandwich ELISA (detects hCG antigen, shows color band)

Answer 78

Starved: Glucagon increases glc by stimulating glycogenolysis in liver & inhibiting glycogenesis Epinephrine -> stimulates Glucagon secretion Depleted glycogen stores -> Cortisol stimulates gluconeogenesis (induces transcription of gluconeogenic enzymes) Fed: Insulin lowers glc by glycogenesis (storage) and glycolysis (catabolism) and inhibition of gluconeogenic enzymes

Answer 79

Starved: Glucagon increases glc by stimulating glycogenolysis in liver & inhibiting glycogenesis Stimulated by epinephrine

Answer 80

stimulates Glucagon secretion (stimulation of glycogenolysis and inhibition of glycogenesis)

Answer 81

Depleted glycogen stores -> stimulates gluconeogenesis (induces transcription of gluconeogenic enzymes)

Answer 82

Fed: lowers glc by stimulating glycogenesis (storage) and glycolysis (catabolism) and inhibiting gluconeogenic enzymes

Answer 83

Lipophilic: oral contraceptives contain lipophilic signaling molecules that have long half-lives (hrs-days), so are often taken daily; ex- Ethinyl Estradiol Hydrophilic: short half-lives (mins-secs) taken as needed; ex- Epinephrine for severe acute allergic rxns to prevent anaphylactic shock

Answer 84

Ethinyl Estradiol (oral contraceptive, long half-life -> taken daily)

Answer 85

Epinephrine (contained w/in epinephrine autoinjectors)- short half-life, taken during severe acute allergic rxn to prevent anaphylactic shock

Answer 86

Same hormone in diff cells may produce diff physiological responses Epinephrine binds beta-adrenergic receptors -> smooth muscle relaxation (bronchial and intestinal) AND heart muscle contraction Produces same 2nd messenger (cAMP), but downstream signaling causes diff physiological effects based on tissue Epinephrine can be used to relieve bronchospasms during an asthma attack AND to restore cardiac rhythms after shock/cardiac arrest

Answer 87

Binds beta-adrenergic receptors -> smooth muscle relaxation (bronchial and intestinal) Can be used to relieve bronchospasms during an asthma attack

Answer 88

Binds beta-adrenergic receptors -> cardiac muscle contraction Can be used to restore cardiac rhythms after shock/cardiac arrest

Answer 89

Beta-agonist albuterol is a hydrophilic molecule that binds to and activates beta2-adrenergic receptors Beta-Agonists relax bronchial smooth muscles and stimulate heart muscle contraction Side effect: tachycardia (rapid heart rate) Administered directly to the lungs (inhaler or nebulizer) to treat airway-constricting conditions (asthma, bronchitis, COPD) Patients unresponsive to albuterol are given epinephrine

Answer 90

Endothelium-derived agent responsible for relaxation of smooth muscle Generated from Arg in endothelial cells (rxn promoted by Ca-calmodulin) Diffuses to neighboring smooth muscle -> activates guanylate cyclase -> cGMP production -> activates protein kinase G -> smooth muscle relaxation and vasodilation Ex- nitroglycerin (should not be taken w/Viagra because the latter inhibits cGMP phosphodiesterase, leading to extreme vasodilation and possibly fatal drops in BP)

Answer 91

Decomposes in the body to NO -> diffuses to neighboring smooth muscle -> activates guanylate cyclase -> cGMP production -> activates protein kinase G -> smooth muscle relaxation and vasodilation Should not be taken w/Viagra because the latter inhibits cGMP phosphodiesterase, leading to extreme vasodilation and possibly fatal drops in BP

Answer 92

Lipophilic compounds that block histamine binding to H1 GPCR -> decrease allergic symptoms Some are anti-emetics and can inhibit motion sickness symptoms Ex- centirizine, loratadine, diphenhydramine hydrochloride

Answer 93

Hydrophilic signaling molecule derived from His that causes allergic symptoms (sneezing, runny nose, itchy/watery eyes) It is a ligand that binds to 4 histamine receptors (H1-4)

Answer 94

GTPase-activating protein for RAS Deactivates RAS by stimulating GTP hydrolysis, releasing GTP from RAS (RAS+GTP=active, RAS+GDP=inactive) In NF-1 gene mutation (encodes for GAP), absence allows RAS to uncontrollably activate pathways to promote nerve tissue growth

Answer 95

Guanine nucleotide exchange factor | Activates RAS GTPases by stimulating GTP -> GDP and release of GDP (RAS+GTP=active, RAS+GDP=inactive)

Answer 96

Special recognition domains on adaptor proteins GRB-2 and IRS-1 Recognize and bind to motifs on the receptor that contain phosphorylated Tyr residues

Answer 97

Loss of insulin stimulation of glc uptake by GLUT4 in adipose and skeletal muscle Obese subjects: reduced insulin activation of PKB (IRS-1/2 in signaling pathway likely impaired) Tyr phosphorylation of IRS-1/2 needed to recruit PI-3 kinase Ser/Thr phosphorylation inactivates IRSs -> degradation Multiple kinases may be involved in Ser/Thr IRS-1/2 phosphorylation (stimulated by cytokines/free FAs/hyperinsulinemia)

Answer 98

2 types: embryonic & adult Differentiate into specialized cells in stages involving multiple factors that combine to produce epigenetic markers in the cell's DNA that restrict DNA expression & the type of cell the stem cell will differentiate into DNA expression can be passed on to daughter cells through cell division, or daughter cells can retain their status as stem cell-> capable of long-term renewal

Answer 99

ES cells Derived from embryo Pluripotent May be used to treat spinal cord injuries, heart failure, Parkinson disease, Type I diabetes, arthritis, osteoporosis, liver failure

Answer 100

Undifferentiated cells that generate cell types in the tissues in which they reside

Answer 101

Induced pluripotent stem cells Recombinant DNA technology being utilized to develop iPS cells from differentiated adult cells (instead of ES cells) May be possible w/genes for 4 TFs: Oct4, Sox2, Nanog, Lin28 May be possible to make patient-specific iPS cells to treat many currently incurable diseases

Answer 102

Describes the cells in the zygote right after fertilization | Have ability to form an entire new organism (twins, quadruplets, etc.)

Answer 103

Describes the cells in the blastocyst ~4 days after fertilization Can give rise to many types of cells but not all types necessary for fetal development

Answer 104

Unconjugated: fairly insoluble in aqueous media, made soluble by 50% methanol & then reacted with Diazo reagent to form indirect bilirubin Conjugated to glucuronate: relatively soluble, reacts with Diazo reagent to form direct bilirubin (absorbs 540 nm light) Total bilirubin in adult serum: .2-1.2 mg/dL Total bilirubin in infant serum: 1-12 mg/dL

Answer 105

Pink/red-purple product formed by reaction of soluble bilirubin with Diazo reagent that absorbs light at 540 nm Normal serum in adults: .1-.3 mg/dL Infants have negligible amounts

Answer 106

Formed by mixing unconjugated bilirubin with 50% methanol in order to make soluble, then reacting with Diazo reagent Measured by total bilirubin minus direct dilirubin

Answer 107

In presence of 50% methanol: measures total bilirubin In absence of 50% methanol: measures direct bilirubin Can also be done with sodium acetate & caffeine-benzoate Sodium acetate causes alkaline pH Caffeine benzoate accelerates coupling of Diazo reagent with unconjugated bilirubin, creates blue product (absorbs at 600 nm)

Answer 108

Results from deficiency of uroporphyrinogen III cosynthase Key intermediates diverted to nonfunctional uroporphyrinogen I isomer, producing red color in urine, red fluorescene of the teeth, premature destruction of erythrocytes, & skin photosensitivity

Answer 109

Deficiency causes congenital erythropoietic porphyria | Body tries to use nonfunctional uroporphyrinogen I isomer

Answer 110

Bruise is type of hematoma due to pooling of blood caused by capillary damage Cleanup by macrophages leads to Hb degradation to heme (red), biliverdin (green), & bilirubin (red-yellow) Released iron trapped as hemosiderin (red-brown)

Answer 111

Due to low levels of conjugating enzyme at birth Hemolysis (blood group incompatibility) or liver dysfunction can lead to pathological jaundice Premature birth exacerbates Excess unconjugated bilirubin can diffuse into basal ganglia-> toxic encephalopathy (kernicterus) Treatment: babies placed under fluorescent blue light to convert bilirubin to polar, water-soluble isomers Intramuscular administration of tin-mesoporphyrin (SnMP: heme oxygenase inhibitor)

Answer 112

Total bilirubin goes from 1 mg/dL to 10-12 mg/dL at 3 days, then back to normal after a week

Answer 113

Potent heme oxygenase inhibitor | Administered intramuscularly to treat neonatal jaundice

Answer 114

Causes neonatal jaundice due to low levels of conjugating enzyme at birth Can diffuse into basal ganglia and cause toxic encephalopathy (kernicterus) Fluorescent blue light can convert bilirubin to polar, water-soluble isomers

Answer 115

Crigler-Najjar syndrome (UDP-glucuronyl transferase deficiency) Type 1: complete absence of the gene Type 2: benign partial deficiency of gene (Arias syndrome) Gilbert syndrome: common, benign, results from decreased UDP-glucuronyl transferase activity, total bilirubin

Answer 116

Encephalopathy in newborns caused by hyperbilirubinema | Excess unconjugated bilirubin diffuses into basal ganglia

Answer 117

Type 1: complete absence of the gene for UDP-glucuronyl transferase, severe hyperbilirubinemia that accumulates in the brain of affected newborns, causing kernicterus Type 2: benign form, results from mutation causing partial deficiency of gene for UDP-glucuronyl transferase (Arias syndrome), enzyme activity decreased to 10%

Answer 118

Complete absence of the gene, severe hyperbilirubinemia that accumulates in the brain of affected newborns, causing kernicterus Treatment: transfusions in the immediate neonatal period, phototherapy, heme oxygenase inhibitors (reduce transient worsening of hyperbilirubinemia), oral calcium phosphate/carbonate (complex with bilirubin in gut), liver transplantation (before brain damage and phototherapy)

Answer 119

common (2-10% of population), benign, results from decreased UDP-glucuronyl transferase activity (25%), total bilirubin

Answer 120

benign form, results from mutation causing partial deficiency of gene for UDP-glucuronyl transferase (Arias syndrome), enzyme activity decreased to 10%

Answer 121

Inflammation of the liver, sometimes caused by viral infections, that leads to hepatic dysfunction Causes increased conjugated and unconjugated bilirubin, conjugated bilirubin accumulates in skin and sclera (eyes), causing yellow coloration May accumulate in urine, causing it to be tea-colored

Answer 122

King George III: variegate porphyria- abdominal pain, delirium, port-colored urine, hallucinations, convulsions (arsenic poisoning from medications) King George IV, Queen Anne, Vincent van Gogh

Answer 123

Scurvy: deficient vitamin C leads to defective prolyl hydroxylase-> can't form collagen, abnormal integrity of connective tissues and skin-> easy bruising Ehlers Danlos: inherited disorders caused by genetic defects in fibril-forming collagen (Type I/III), in its synthesizing enzymes (lysyl oxidase), or in copper availability Symptoms: thin, stretchy skin w/abnormally loose/bendy joints Osteogenesis imperfecta: inherited disorders marked by deficiencies in Type I collagen, varying severity Symptoms: brittle bones, loose joints, blue sclera

Answer 124

Phagocytic WBCs engulf and digest aged RBCs, allowing iron to be extracted from degraded Hb and loaded onto transferrin for transport to appropriate sites

Answer 125

Deficient vitamin C leads to defective prolyl hydroxylase-> can't form collagen, abnormal integrity of connective tissues and skin-> easy bruising

Answer 126

Locus heterogeneity Inherited disorders marked by deficiencies in Type I collagen, varying severity Symptoms: brittle bones, loose joints, blue sclera

Answer 127

Inherited disorders caused by genetic defects in fibril-forming collagen (Type I/III), in its synthesizing enzymes (lysyl oxidase), or in copper availability Symptoms: thin, stretchy skin w/abnormally loose/bendy joints

Answer 128

Phosphodiesterases reduce cyclic NTs-> noncyclic NTs Ex: cAMP -> AMP by cAMP phosphodiesterase Phosphodiesterase inhibitors prolong cyclic NT effects Ex: Viagra, caffeine

Answer 129

Covalently modify (ADP ribosylation) alpha subunits of Gs and Gi, decreasing GTPase activity -> remains active (GTP-bound)-> continued stimulation of AC and overproduction of cAMP Ex: Cholera (ADP ribosylation of Cys on Gialpha)-> CFTR stays open-> loss of electrolytes and water Ex: Pertussis -> loss of fluids, excessive mucous secretion (whooping cough)

Answer 130

Prolong cyclic NT effects (NTs can't be broken down) Ex: Viagra inc cGMP-> smooth muscle relaxation/vasodilation Ex: caffeine-> cAMP accumulates-> tachycardia

Answer 131

``` Inhibits G protein Covalently modifies (ADP ribosylation) Cys on alpha subunits of Gi, decreasing GTPase activity -> remains active (GTP-bound)-> continued stimulation of AC and overproduction of cAMP-> CFTR stays open-> loss of electrolytes and water ```

Answer 132

autosomal dominant disorder involving a deficiency in spectrin that causes spheroidal RBCs that are less rigid and subject to destruction in the spleen Alteration caused by cytoskeletal abnormalities at sites of interaction b/w spectrin 𝛂 and 𝛃 and protein 4.1 Symptoms: anemia, jaundice, splenomegaly Treatment: splenectomy

Answer 133

Autosomal dom disorder in which defective self-association of spectrin subunits, defective spectrin binding to ankyrin, protein 4.1 defects, and abnormal glycophorin result in oval-shaped RBCs Symptoms: anemia, jaundice, splenomegaly Treatment: splenectomy

Answer 134

``` Results from point mutation (Glu→ Val in 𝛃-globin chain of hemoglobin) Hb S (defective hemoglobin) tetramers aggregate→ polymerize in deoxygenated RBCs→ biconcave disk changes into rigid/less deformable sickle-shape→ severe chronic hemolytic anemia & obstruction of postcapillary venules ```

Answer 135

Heritable anemias characterized by defective synth of 𝛂 or 𝛃 chains of normal hemoglobin tetramer (𝛂2𝛃2) Symptoms: anemia (defective Hg synth & hemolysis)

Answer 136

Ab-induced hemolytic disease in newborns caused by blood group incompatibility b/w mother & fetus (ABO & Rh antigens) in the last trimester of pregnancy Possible combos: Rh+ fetus in Rh- mother; A/B/AB fetus in O mother Symptoms: hemolytic anemia→ hypoxic injury to heart/liver→ generalized edema; jaundice (hyperbilirubinemia→ unconjugated bilirubin take up by brain tissue)→ CNS damage Rh antigen does not cause issues in 1st pregnancy b/c IgM is produced but cannot cross the placenta; smaller IgG produced in next pregnancies which can cross placenta Treatment: give mother anti-D globulin soon after delivery of Rh+ baby, preventing long-lasting Rh antigen sensitization

Answer 137

Defects in wound healing, recurrent infections, marked leukocytosis (inc # of leukocytes) LAD I: defect in 𝛃 subunit of integrin→ prevents diapedesis→ inflammatory cell infiltrates devoid of neutrophils LAD II: absent fucosyl-containing ligands for selectins due to congenital defect of endogenous fucose metabolism Selectin-carb interactions help roll leukocytes on endothelial cell surface for diapedesis to inflamed areas

Answer 138

Mast cell-eosinophil interaction Mast cells degranulate→ release chem mediators→ eosinophils/neutrophils attracted from blood vessels into connective tissue in respiratory mucosa Eosinophils release additional mediators→ enhance bronchoconstriction & edema Eosinophil cationic protein & major basic protein→ damages epithelial cell lining, disturbs mucociliary function

Answer 139

Decrease in platelets to 20,000/µL of blood) Can be caused by dec in platelet production, inc in platelet destruction, & platelet aggregation in microvasculature (result of pathologic changes in endothelial cell production of procoagulant substances)

Answer 140

increase in platelets circulating in blood

Answer 141

congenital bleeding disorder caused by deficiency of glycoprotein 1b-factor IX complex Platelets unable to attach to vascular subendothelial surfaces (relevant for platelet aggregation after exposure to injured tissue)

Answer 142

Congenital bleeding disorder caused by deficiency in von Willebrand’s factor (protein ass w/factor VIII) Platelets unable to attach to vascular subendothelial surfaces (relevant for platelet aggregation after exposure to injured tissue) Most freq bleeding disorder

Answer 143

common hereditary disease ass w/serious bleeding due to deficiency of factor VIII or IX Gene on X chromosome, mutation→ hemophilia A & B (X-linked rec: affected males, female carriers) Hemophilia A: reduction in amt/activity of factor VIII (protein synth in liver) Hemophilia B: reduction in amt/activity of factor IX Treatment: plasma-derived or engineered recombinant factors

Answer 144

Autosomal dominant disease involving macrothrombocytopenia due to reduction in content of 𝛂 granules Thrombocytopenia + inc platelet volume

Answer 145

``` Ass w/macrothrombocytopenia MYH9 mutation (normally encodes nonmuscle myosin heavy chain IIA- isoform in platelets & neutrophils) → defective production of platelets during proplatelet formation ```

Answer 146

Ass w/missense mutations in Desmocollin-2→ desmocollin not properly inserted into membrane (lack of tight cell-cell contact) Common cause of sudden cardiac death in young

Answer 147

Autoimmune response Pemphigus foliaceus: abs against desmoglein 1→ loss of adhesion of keratiniocytes in the superficial layers of the epidermis

Answer 148

invades intestinal cells, divides into new cells, then mimics ARPs to use human actin to push through Surface protein ActA activates Arp ⅔ complex→ growing filaments push cell through cytoplasm

Answer 149

mutated fibrillin (microfibrils in elastin fibers)

Answer 150

Deficiency: Insufficient diet, menstruation, aspirin abuse, GI ulcers (smaller, less color on smear)

Answer 151

malregulated iron uptake/export by enterocyte Autosomal rec incidence: 1/250 Symptoms: cirrhosis, skin pigmentation, manifests ~60 y/o Treat w/blood letting Overload: Genetics can affect Fe overload in a patient

Answer 152

B12/Folate needed for DNA synthesis→ can’t make RBCs in bone marrow Large RBCs→ high mean corpuscular volume (MCV) Normal Hb in relation to size Smear: macrocytic, normochromic (normal Hb), oval cells Large RBCs in bone marrow (megaloblasts) Hypersegmented neutrophils (lots of lobes)

Answer 153

B12 Deficiency due to lack of intrinsic factor Type of megaloblastic macrocytic anemia Results from failure to absorb vitamin B12 (lack of intrinsic factor) Gastric mucosa destruction (auto-immune) or hereditary low levels of IF Occurs in elderly

Exam 2 Correlation Boxes Flashcards

(177 cards)