Med foundations 1 Flashcards

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1
Q

Pathogenisis of Huntingtons

A

disease of nuclear transport. Either an acquired NLS signal, or an exposed site that gets cut allowing difusion into nucleus

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2
Q

Clinical significance of Exportin-1

A

upregulated in tumor cells. So if you could inhibit, you could inhibit the export of tumor suppresers

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3
Q

Examples of Laminopathies

A

Progeria

Restrictive Dermopathy

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4
Q

Membrane fusogenic diseases

A

HIV and measles

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5
Q

Coccidiosis (including toxoplasmosis)

A

interaction of coccidial parasites w/ cell surgace carbohydrates.

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6
Q

Disease of membrane fluidity

A

Mycoplasma pneumonia: mycoplasma attach to the base of respiratory epithelial cell cilia and extract cholesterol leaving the cilia floppy.

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7
Q

Sphingolipid diseases (subset of lysosomal storage diseases)

A
  1. Gaucher and fabry (successfully used enzyme replacement therapy)
  2. Tay sachs
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8
Q

Eicosanoids

A
  1. Prostaglandins (PGE2: uterine contractions)
  2. Thromboxanes (TXA2: platelet aggregation)
  3. Leukotrines (LTC4, LTD4, LTE4: vasodilation, asthma,
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9
Q

Proteins translated in the cytosol go to:

A

The nucleus, mitochondria, peroxisomes, and cytoplasm (DEFAULT)

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10
Q

proteins that are translated in the ER go to:

A

The er, the plasma membrane, lysosomes, golgi, or secretory vesicles (DEFAULT)

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11
Q

Signal sequence the sends proteins to the ER

A

KDEL
(lys-asp-glu-leu)

KDEL mutations are implicated in cardiomyopathy. potentially a druggable target

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12
Q

Signal sequence that sends proteins to the peroxisomes

A

SKL

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13
Q

When are chaperone proteins induced?

A

When there is elevated temp, toxins, or things that cause misfolding of proteins. Many chaperones are Heat shock proteins. Chaperones bind and take to peroxisomes

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14
Q

Two diseases of defective peroxisomal targeting

A

zellweger syndrome

neonatal adrenoleukodystrophy

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15
Q

Where does phosphorylation of lysosomal proteins occur?

A

only in the cis golgi! phosphorylated at the mannose 6 phosphate. only non amino acid targeting label.

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16
Q

Examples of lysosomal storage diseases

A

Tay sachs, hurler, sandhof, pompe

I-cell, pseudo-hurler

GM gangliosidoses, mucopolysaccharidoses

sulfatase deficiencies,
metachromatic leukodystrophy, B-galactosidase deficiencies

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17
Q

I-cell disease

A

In I-cell disease, the defect is in the phosphotransferase enzyme that phosphorylates the 6-position on specific mannose residues. This is the targeting signal for all lysosomal enzymes. AS a result, the lysosomes fill up with substrates they usually degrade (show up as inclusion bodies).

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18
Q

What signal sequence directs proteins to the mitochondria?

A

a longish 75 aa sequence near the N-terminal of the protein.

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19
Q

What are the subunits of microtubules, microfilaments, and intermediate filaments?

A

microtubules: tubulin
microfilaments: actin
intermediate: lamins, keratin, neurofilamin, vimentin, desmin, GFAP

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20
Q

Accessory proteins

A

MAPs, Tau (microtubules)

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21
Q

Hyperstable structures of microtubules, microfilaments, and intermediate filaments?

A

Microtubules: cilia, flagella, centrioles,

microfilaments: sarcomere, microvilli
intermediate: desmosome

22
Q

Motors

A

Motors are ATPases

Microtubules: dynein (-) or away from synapse
and kinesin (+) towards synapse

Microfilaments: myosin

23
Q

Functions of cytoskeleton

A

microtubules: cili/flagella functions; mitotic spindle, organelle/cargo transport
microfilaents: phagocytosis, cytokinesis, cell motility, force generation (muscle) membrane stabilization

intermediate filaments: mechanical integrity (nucleus, cell-cell, cell-matrix)

24
Q

Drugs of microtubules

A

taxol, vinca alkaloids, colchicine, vinblastine

25
Q

Medical significance of each cytoskeleton subunit

A

Microtubules: Kartagener’s (immotile cilia syndrome) cancer chemotherapy dementias (Tau-opathies)

Microfilaments: Hereditary spherocytosis, listeria infection, vaccinia

intermediate filaments: laminopathies, blistering disease, cancer diagnosis

26
Q

Structure of axoneme

A

specialized MT-based structures (9+2 array)

27
Q

Taxol

A

binds and stabilizes microtubules. cant dissasemble

28
Q

Colchicine, colcemid

A

bind tubulin subunits and prevent their polymerization. used in gout

29
Q

Vinblastine, vincristine. (Vinca alkaloids)

A

bind subunits and prevents their polymerization.

30
Q

Kartageners/Primary Ciliary Dyskinesia/ Immotile Cilia Syndrome

A

sperm are missing dyenein arms. infertility.

31
Q

What molecules are involved in the RBC membrane?

A

Band 3 protein, glycophorin, and actin participate in a complex with spectrin. importand in maintaining the deformability and strength

32
Q

Hereditary Spherocytosis

A

defective membrane cytoskeleton interactions. results in red blood cells getting stuck. treated with spleen removal or transfusion

33
Q

What type of cells are vimentin intermediate filaments in?

A

most mesenchymal stem cells, including endothelial and fibroblasts

34
Q

What type of cells are desmins in? (IF)

A

muscle cells

35
Q

What type of cells are keratin in?

A

epithelial cells

36
Q

What type of cells are lamins in?

A

all nucleated cells

37
Q

Why is the cell type specificity of intermediate filaments important?

A

Important in cancer treatment because treatment is cancer specific. IFs can help identify tumor cells that are hard to id.

38
Q

What are specialized IF structures?

A

Desmosomes

39
Q

What diseases occur from desmosome and hemidesmosomes?

A

blistering diseases

40
Q

How do smallpox virus (variola), vaccinia virus, and listeria work?

A

They hijack actin machinery, making the cell propel them into other cells.

41
Q

Composition of membranes

A

50% protein; 50% lipid, 8% carbohydrate. Can be different in different cells, ie myelin had high lipid content

42
Q

Which kind of lipid chain is responsible for fusing?

A

unsaturated (bent) chain

43
Q

How to sphingolipids differ from phospholipids?

A

They are structurally similar but they are straight chained and are not fusogenic

44
Q

Lysosomal storage diseases successfully treated by enzyme replacement therapy

A
Gaucher
HUnter
Pompe
Morqio A
Maroteaux-Lamy
Lysosomal Acid Lipase Deficiency
45
Q

What are carbohyrdates important for on the membrane?

A
  1. blood type antigen
  2. Pathogen recognition sites
  3. Reservoir for cytokines/growth factors
46
Q

What molecules can permeate the plasma membrane?

A

Hydrophobic molecules (O2, CO2, N2, benzene)

47
Q

Definition and examples of symport and antiport

A

Symport: moves in same direction (Na-glucose)

Anti-port (one molecule in on e out). Example: band 3-anion

48
Q

Example of active transport channel

A

Sodium potassium pump. H+ pump

49
Q

What uptake mechanism uses evagination and which uses invagination?

A

RME uses invagination, phagocytosis is actin mediated and uses evagination

50
Q

List the Mucopolysacharidosis diseases

A

Hunter, Hurler, Sanfilipo, Pompe, and Morquio. These are diseases with enzymes that dont break down glycosaminoglycans

51
Q

What is the disease that results from KDEL signal mutations?

A

KDEL signals the cell to go to ER. These result in cardiomyopathies.

52
Q

MDR

A

Multiple drug resistance: ABC type ATPase