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Cell and Tissue Biology UICCOM > Exam 1 Clinical CorrelationsUTF8 > Flashcards

Exam 1 Clinical CorrelationsUTF8 Flashcards

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AP® Biology flashcards Biology 101 flashcards
1
Q

Wiskott-Aldrich Syndrome (WAS)

A

mutated WASP protein controlling actin assembly, skin lesions, immune system defects

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2
Q

Hypertrophic Cardiomyopathy

A

cardiac alpha-actin, problems with contraction and force transmission, leading cause of sudden cardiac death in young adults

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3
Q

Amyotrophic Lateral Sclerosis (ALS)

A

actin protein profilin-1 mutation causes familial form; progressive dysfunction and death of motor neurons; leads to atophy of muscle cells

Extra (I think): also SOD1 mutation affecting fast axonal transport via defect in kinesin but not dynein; 90% sporadic, 10% familial; dying-back neuropathy

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4
Q

Alzheimer’s Disease (AD)

A

microtubule-associated protein Tau involved in trafficking of materials and formation of neurofibrillary tangles, accumulation of IF neurofilaments

Extra: oligomeric amyloid-beta affects kinesin and dynein; modified or unstacked Golgi

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5
Q

Frontotemporal Dementia and Parkinsonism (FTDP)

A

mutation in FTDP-17, presents as a tauopathy in cortical neurons

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6
Q

Hereditary Spastic Paraplegia (HSP)

A

most common is spastin mutation

Extra: presents as dying-back neuropathy in upper motor neurons, can also be heterozygous mutation in neuron-specific kinesin 1A (homozygous is embryonic lethal)

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7
Q

Lissencephaly

A

Most common mutation is Lis1, a dynein-associated protein that anchors dynein to specific locations in cell; defect in neuronal migration, perturbs layering of cortex, which is smooth instead of normal gyri (also mutations in doublecortin and tubulin 1a)

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8
Q

Congenital Fibrosis of Extraocular Muscles Type 3 (CFEM3)

A

beta 3 tubulin mutation affecting motor neurons and causing facial paralysis, also kinesin KIF21A gene

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9
Q

Epidermolysis Bullosa Simplex (EBS)

A

mutation in keratins, presents as blistering disease that differs in location and severity depending on keratin gene affected; can also be plectin if sensory and muscle involved

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10
Q

Progeria Syndrome

A

point mutation in prelamin gene, affects post-translational modification in ER where farnesyl group not removed and becomes progerin accumulation instead of nuclear lamin; presents as premature aging; clinical trial of farnesyltransferase inhibitors

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11
Q

Griscelli Syndrome

A

mutation in myosin V causes delivery of pigments from melanosomes to hair follicle cytoskeleton, presents as silvery sheen in hair, albinism, immunodeficiency; inherited autosomal recessive

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12
Q

Usher Syndrome

A

autosomal recessive, mutation in myosin VII, hearing loss and retinal pigmentosa

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13
Q

Snell?s Waltzer Mouse

A

mutation in myosin VI (myo6), presents as vestibular/balance defects

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14
Q

Spinal Muscular Atrophy

A

mutation in dynein heavy chain

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15
Q

Syndromic Male Sterility

A

mutation in dynein or nexin in cilia, no crosslinking of adjacent doublets in 9+2 microtubule arrangement, ciliary dyskinesia

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16
Q

Situs Inversus

A

mutation in flagellar dynein, causing reversal or random organ locations, ciliary dyskinesia, particularly effecting nodal cilia

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17
Q

Charcot-Marie-Tooth Type 2A

A

mutation in kinesin, presents as peripheral neuropathy

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18
Q

Myasthenia Gravis

A

autoimmune attack on acetylcholine receptor (AChR), reduced number function of NMJs leads to decreased contraction of muscle and later atrophy

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19
Q

Cystic Fibrosis

A

improper folding of CFTCR in ER lumen

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20
Q

Role of Integrin in Blood Clot & Cancer

A

block with RGD tripeptide (Integrillin)

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21
Q

HER2+ Breast Cancer

A

block with Herceptin

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22
Q

Cardiac Arrythmia

A

mutation in ankyrin

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23
Q

Proteinuric Kidney Disease

A

mutation in dynamin involved in pinching off of clathrin-coated pits

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24
Q

Irreversible Sickle Cell Disease

A

mutation in spectrin involved in maintaining shape of RBC

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25
Q

Duchenne?s Muscular Dystrophy

A

mutation in dystrophin; MG53 drug shows promise; protein involved in linking laminin of external lamina to actin; progressive muscular weakness; encoded on X chromosome (almost exclusively seen in males). Over time, atrophied muscle fibers invaded by connective tissue

26
Q

Inherited Deafness

A

mutation in connexin-26 in gap junctions

27
Q

Cataracts

A

mutation in connexin-50 in gap junctions

28
Q

Kartagener?s Syndrome

A

type of primary cilia dyskinesia (PCD) caused by absence of dynein arms in normal 9+2 cilia arrangement

29
Q

Toxic Hepatic Injury

A

hydropic swelling of hepatocytes leads to enlarged cisternae in ER

30
Q

Chronic Activation of Unfolded Protein Response (UPR)

A

causes inflammation in obesity, atherosclerosis, diabetes, and cancer

31
Q

I-Cell Disease

A

lysosomal storage disease, deficiency in phosphotransferase in cis-Golgi; can?t add phosphate to mannose; not recognized by M6-P receptor, no delivery to lysosome, disorder of lysosomal biogenesis, no hydrolases in lysosome; accumulation of GAGs and glycolipids; elevated lysosomal enzymes in serum

32
Q

Clostridium Botulinum

A

releases toxins that destroy SNARE proteins, affecting exocytosis in neurons and failed contraction in muscle

33
Q

Familial Hypercholesterolemia

A

mutation in LDL receptor prevents binding of LDL, used in normal individuals to show clathrin-coated endocytosis via ferritin-labeling

34
Q

Tay-Sachs Disease

A

lysosomal storage disease of sphingolipid degradation, accumulation of GM2 ganglioside via deficiency in hexosaminidase-A

35
Q

Hurler Syndrome

A

lysosomal storage disorder of GAG degradation, accumulation of dermatan sulfate due to deficiency in alpha-L-iduronidase

36
Q

Gaucher Disease

A

lysosomal storage disorder of sphingolipid degradation, accumulation of glucosylceramide due to deficiency in beta-glucocerebrosidase (delivery pathway doesn?t involve M6-P but rather TM protein LIMP-2)

37
Q

Multiple Myeloma

A

treatment with proteasome inhibitor Velcade to allow protein build-up in plasma cells which causes cell death

38
Q

Zellweger?s Syndrome

A

defect in ability to import proteins into peroxisomes or degradation, build up of LCFA impairs normal function

39
Q

Adrenoleukodystrophy

A

impaired beta-oxidation results in accumulation of vLCFA in brain and adrenal gland

40
Q

Kearns-Sayre Syndrome

A

abnormalities or deletions in mtDNA affects eye movement, type of mitochondrial myopathy affecting muscles of eye

41
Q

Mitochondrial disease (mito)

A

inability to produce enough energy, presents as constant fatigue

42
Q

Pap Smear

A

female puberty, hormonal changes cause metaplasia in cervix, but also chance for neoplasia (development of cancerous lesions) so check via pap smear

43
Q

Bacterial Induced Food Poisoning

A

diarrhea and dehydration due to disruption of tight junctions between adjacent intestinal epithelial cells; E.coli attacks ZO proteins (PDZ domains) while Clostridium perfringens attacks claudin, massive fluid loss via paracellular pathway

44
Q

Marfan?s Syndrome

A

mutation in fibrillin-1 responsible for bundling elastic fibers; long extremities, no pressure on bone due to presence of elastic fibers

45
Q

Ehlers-Danlos Syndrome

A

mutation in collagen gene, hyperelastic skin, hypermobility in joings, very fragile blood vessels; ?Rubber Man?

46
Q

Scurvy

A

vitamin C/ascorbic acid deficiency, no hydroxylation of proline and lysine residues in collagen presents as poor wound healing and bone formation

47
Q

Osteopetrosis

A

disease of malfunctioning osteoclasts, increased bone density but very fragile and break easily; bone formation exceeds resorption

48
Q

Osteoperosis

A

insufficient bone mineralization often seen in postmenopausal women; bone resorption exceeds formation; associated with decreased estrogen, which normally inhibits osteoclast activity

49
Q

Vitamin D Deficiency

A

decrease in absorption of calcium by intestines, decreased calcium can cause rickets and osteomalacia

50
Q

Vitamin A

A

deficiency suppresses endochondral growth of bone while excess leads to fragility and long bone fractures

51
Q

Acromegaly/Gigantism

A

over-secretion of somatotropin, involved in stimulating cartilage proliferation and bone growth

52
Q

Dwarfism

A

absence or severe hyposecretion of thyroid hormone during development and infancy leads to failure of bone growth

53
Q

Sickle Cell Anemia

A

hemoglobin HbS point mutation (glutamic acid … valine) in beta-globin chain gene position 6 chromosome 11; sickled shape cell sticks to walls of blood vessels, especially in smaller capillaries such as those of kidney and brain; heterozygous individual have resistance to malaria, gametocyte of Plasmodium falciparum needs normal Hb inside RBC

54
Q

Thrombocytopenia purpura

A

red/purple discoloration of skin, associated with reduction in circulating blood platelets

55
Q

Primary metastasis

A

migration/diapedesis from extravascular marrow across sinusoidal epithelium into the blood in leukemia

56
Q

Rigor Mortis

A

absence of ATP in muscle cell causes tight binding of myosin-actin (in normal muscle, binding of ATP occurs to induce conformational change and cause uncoupling)

57
Q

Parkinson?s Disease (PD)

A

loss of dopamine-secreting cells in substantia nigra and basal ganglia of brain responsible for coordination of smooth and focused skeletal muscle activity

58
Q

Multiple Sclerosis (MS)

A

demyelinating disease; slow, rapid loss of function of oligodendrocytes and myelin, unknown etiology; shadow plaques indicate some level of remyelination; autoimmune targeting of myelin basic protein (MBP), produces plaques

59
Q

Krabbe Disease

A

autosomal recessive lyososomal storage disease caused by deficiency in lysosomal galactosylceramidase, accumulation of sphingolipids; demyelination, neuronal and muscular atrophy; most cases in infants, Twitcher mouse model

60
Q

Becker Muscular Dystrophy

A

partial loss of function of dystrophin (as compared to total LOF in Duchenne MD); also X-linked so almost exclusively found in males

Cell and Tissue Biology UICCOM (2 decks)

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