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Disease Deck M2M > disease (and a few other things) > Flashcards

disease (and a few other things) Flashcards

1
Q

Gout

A

purine precipitate in joints, not pyrimidines bc pyrimidines are smaller (more soluble with 1 ring)

->uric acid accumulation

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2
Q

Lynch Syndrome (HNPCC)

A

mismatch repair problem (checking nucleotides during replication)

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3
Q

Xeroderma pigmentosum

A

TFIIH/NER problem
Abnormal pigmentation, cancer issues bc Pyrimidine (Thymine) dimer formation isn’t repaired with NER (nucleotide excision repair)

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4
Q

Cockayne Syndrome

A

TFII H problem, related to recognition/repair during transcription
->CNS disorder, short stature, premature aging

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5
Q

Cytosine is deaminated

A

Becomes Uracil

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6
Q

5-methylcytosine deamination

A

Becomes Thymine

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7
Q

alkylation of Guanine

O-CH3

A

O6-methylguanine -> binds thymine instead of cytosine

Repair: O6-meG methyltransferase (MGMT) in humans

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8
Q

Lesch-Nyhan

A

systemic accumulation of purines (similar to gout)

Neurological signs include poor muscle control and moderate mental retardation. These complications usually appear in the first year of life

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9
Q

Trichothiodystrophy

A

TFII H problem

  • > brittle hair
  • > intellectual impairment
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10
Q

Marfan Syndrome

A

abnormal splicing of fibrillin gene

-> Tall and prone to aneurysm

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11
Q

Abnormal splicing of CD44

A

Abnormal splicing of CD44 (cell-surface glycoprotein) is a predictor of tumor metastasis. Used as diagnostic and prognostic marker.

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12
Q

Beta-thalassemia

A

Mutation in DNA control Element
mutation problem within TATA box of beta-globin protein
->mild anemia

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13
Q

Not a disease

Beta globin + Alpha globin =

A

most common form of hemoglobin (iron containing protein within RBC)

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14
Q

Gamma-Delta-Beta thalassemia

A

Mutation DNA Control Element
Deletion of locus control region for beta-globin genes (BAD!!!!)
-MAJOR ANEMIA

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15
Q

Hemophilia B Leyden

A

Mutation DNA promoter region of clotting protein gene factor IX-> causes less transcription 1%

x-linked recessive, gets better at puberty -> 60% transctiption because promoter shared/overlapped with androgen receptor promoter site

-Clotting problem

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16
Q

Fragile X syndrome

A

Upstream DNA mutation of FMR1 causing excess (200+) CGG repeats -> CpG methylation (on islands) -> silencing of the gene FMR1

->mental retardation, enlarged testicles

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17
Q

craniosynostosis

A

Mutation of homeodomain protein (helix-turn-helix) MSX2-> hyperactive protein gain of function -> hyperexpression of gene that leads to suture (fontanelle) closure.

->mental retardation if not corrected surgically

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18
Q

Waardenburg Syndrome

A

MUTATION in sequence specific DNA binding protein
MITF gene mutation ->TF bHLH mutation -> plays a role in melanocyte development

->deafness, pigmentation defects (eyes and other stuff)

19
Q

melanocyte

A

melanin producing cells; located in the bottom layer of the skin’s epidermis, the middle layer of the eye, the inner ear, meninges, bones, and heart.

Melanin is the pigment primarily responsible for skin color.

20
Q

Androgen insensitivity syndrome

A

Androgen receptor ( zinc finger protein) inefficiency in either DNA binding domain or ligand binding domain ->downregulation of gene controlled by male androgens

->feminization/undermasculinization

21
Q

Leukemia

A

hematopoietic (formation of blood cell components) disease/malignancy. Translocation of chromosome -> gain in function of proteins -> TF’s interact with and alter HAT’s/HDAC’s activity

HDAC = histone deacetylase
HAT= histone acetyl transferase
22
Q

Rubinstein-Taybi syndrome

A

HAT/HDAC problem
Mutation in 1 copy CREB Binding Protein gene (haploinsufficiency): CBP = HAT used in development

insufficiency =
->mental retardation, growth retarding, broad thumbs/toes, facial dismorphism

23
Q

Scurvy

A

Deficiency in vit C

Vit C needed to mediate hydroxylation (-OH) of proline residues in collegen -> stabilizes collagen

-> weak connective tissue

24
Q

Virus uses IRES and shuts down cap dependent translation

A

In some cases, the virus produces a protease that cleaves eIF4G, shutting down cap-dependent translation. The virus can continue using an IRES.

eIF4E and eIF4G cannot come together to promote translation.

Virus examples: HIV, poliovirus, Hep C, rhinovirus

25
Q

mTOR works by ____

A

mTOR -> kinases -> phosphorylates 4EBP1 -> 4EBP1 no longer inhibits eIF4E -> upregulates translation

26
Q

cancer and mTOR…

A

cancers upregulate mTOR

->less inhibition -> more translation

27
Q

Rapamycin

A

shuts off mTOR (mammalian target of rapamycin)-> less kinase activity -> 4EBP1 not phosphorylated -> able to bind/inactivate eIF-4E

28
Q

Clotting Disorders

A

Carboxylation (-COOH) of glutamate within prothrombin is needed for proper clotting.

Mediated by vit K
low vit K -> clotting disorder

29
Q

Warfarin/coumadin

A

anticoagulant/clotting
works by targeting carboxylation (-COOH) of prothrombin (makes less carboxylation happen)

Works specifically by inhibiting recycling of Vit K

30
Q

Congenital Disorder of Glycosylation (CDG)

A

post-translational disorder in adding carbohydrate to asparagine residues of proteins within cell membrane. Glycosylation needed to help hydrophillicity.

Common manifestations include ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features

31
Q

Prion disease

A

PrPc-> PrPsc

-Misfolded with many B sheets -> causes other PrPc’s to misfold -> amyloid plaques

32
Q

Alzheimer’s disease

A

amyloid beta 42 is main culprit. Though increased AB40 also affects development

AB42 aggregates as plaques -> disruption/inflammation/tau protein tangles

-> nuerodegenerative -> memory loss/CNS trouble/trouble with motor/behavioral changes

33
Q

Parkinson’s Disease

A

synuclein misfolds -> accumulation of lewy bodies in brain/spinal cord

34
Q

Amyloidosis

A

Generalized protein misfolding that is systemic

->DMII, cardiac amyloidosis, ect.

35
Q

Alpha-amanitin

A

Substance in death cap mushroom
Inhibits RNA Pol-II movement at bridge -> cannot translocate down DNA

->Liver/systemic damage = death

36
Q

Rifampicin

A

Antibiotic: binds subunit of prokaryotic RNA polymerase and blocks its pooper (exit channel)

37
Q

Tamoxifen

A

Competitive antagonist to estrogen at ER–>
binds estrogen receptor and doesn’t allow estrogen to bind correctly.

-> treatment in breast cancer (especially receptive positive BC in pre- menopausal women).

38
Q

Antibiotic usual mode of inhibition??

This might not be right

A

Interfere with translation (tRNA/ribosomes/elongation)

39
Q

avastin (bevacizumab)

A

human monoclonal antibody

angiogenisis inhbitor (formation of new blood vessels)

used to treat cancer

40
Q

acetyl group

A

-COCH3

41
Q

Li-Fraumeni syndrome

A

p53 mutation -> less inhibition of cell proliferation that has dmg that needs to be corrected -> increased probability of cancer

42
Q

APC mutation

A

Axin/APC complex –l beta-catenin accumulation by phosphorylation by signaling ubiquitin- proteosome degradation pathway -> low cytoplasmic pool of b-catenin.

APC mutation destabilizes Axin/APC complex such that it doesn’t phosphorylate beta catenin -> b-catenin accumulation -> promotes upregulation in nucleus that causes proliferation ->increased likelyhood of COLON CANCER.

**Extracellular Wnt molecule is physiologic cell surface signal that causes inhibition of Axin/APC complex -> build up of b-catenin -> proliferation

43
Q

Crohn’s Disease

A

peak onset age 15-30

Disease
Ileum (always) and colon
discontinous
including upper GI
transmural inflammation
hematochezia RARE(
Fistula's common

ALSO: strictures (narrowing), granuloma’s (collection of macrophages).

Risk Factors
-Smoker

44
Q

Ulcerative Colitis

A 
located rectum
continuous pattern
localized lower GI
Fistula's Rare
Mucosal inflammation
hematochezia common

-former/non-smokers > risk

Disease Deck M2M (3 decks)

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