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Ann's M2M Cards - weeks 1, 2 > Diseases > Flashcards

Diseases Flashcards

1
Q

UV Radiation causes…

A

TpT cyclobutane dimer
also 6-4 photoproduct

skin cancer

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2
Q

Retinoblastoma

A

pRB gene
tumor supressor gene
trxn problems

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3
Q

Colon Cancer

A

CpG methylation problem
trxn problems
tumor supressor gene

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4
Q

Adenosine Deaminase Deficiency

A

ADA defect
SCID (severe combined immunodeficiency)
humoral and innate imm. problems (T & B cells)
less DNA synthesis

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5
Q

Beta Thalassemia - trxn problems…

A

Unable to synth. Beta-Hemoglobin
mutation in TATA box
trxn problem - initiation
clinically severe

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6
Q

Xeroderma Pigmentosum

A

XBP (part of TF II H) = helicase activity in Poll II
Unable to repair UV damage
Autosomal Recessive

DNA repair problem

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7
Q

Marfan Syndrome

A

splicing defect
fibrolin gene
Tall, protruding chest, aortic weakness

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8
Q

Beta-Thalassemia - control element

A

mutation in DNA control element
beta-globin promoter
less beta-globin mRNA produced in erythroid cells (anemia)
generally clinically mild

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9
Q

gamma-delta-geta Thalassemia

A

mutation in DNA control element

deletion of locus control region in Beta-globin gene cluster
LCR responsible for trxn of all genes in the cluster

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10
Q

Hemophelia B Leyden

A

mutation in DNA control element
Factor IX deficiency
X-linked recessive
Clotting problems till puberty

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11
Q

Fragile X Syndrome

A

mutation in DNA control elements
mental retardation, facial defects, postpubertal macroorchidism

CGG repeat in 5’ region of FMR1 gene facilitates methylation of C in CpG islands —> trxn’l inactivation of FMR1 gene

normal males = 6-50 repeats. affected males = >200 rpeats —> incresed trxn of FMR1

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12
Q

Different Beta Thalassemias

A

Splicing defect - TATA box binding, single bp mutation = severe beta globin deficiency

Control Element defect = reduced beta globin production = less severe

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13
Q

IgM can have two different versions. What are they and what process differentiates them?

A

Different poly A tail site choice will produce either a membrane IgM or a secreted (serum) IgM

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14
Q

Why is splicing of CD44 significant?

A

abnormal splicing of CD44 contributes to tumor metastisis

is a predictor of tumor metastisis (diagonistic and prognostic)

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15
Q

Altered poly A in cancer cells?

A

cleave upstream from normal site. shortened 3’UTR, extended poly A tail

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16
Q

alpha- Thalassemia caused by?

A

poly A site mutation in alpha-2-globin genes

AATAAA —> AATAAG = bad

readthrough transcripts extend beyond normal polyA site in mRNA

17
Q

Craniosynostosis

A

sutures close too soon

homeodomain (HTH) DNA binding protein domain mutation causes overactivity / overgrowth

18
Q

Androgen Insensitivity

A

zinc finger DNA binding domain mutation

XY genotype, female phenotype (externally)

insensitivity to testosterone

19
Q

Waardenberg Syndrome type II

A

bHLH DNA binding domain mutation

deafness, pigmentation anomalies in eyes, skin, hair

MITF - encodes a bHLH protein
encodes trxn factor for melanocytes

20
Q

Hereditary non-polyposis colorectal cancer (HNPCC)

A

Mismatch repair machinery mutation

Huang lecture

21
Q

Hemoglobin Wayne?

A

associated with anemia

3’ terminal frameshift mutation in hemoglobin
longer C-terminal tail

22
Q

Hemoglobin Constant Spring ?

A

associated with anemia

UAA stop codon to CAA coding for Gln (sense mutation)
longer C-terminal tail

23
Q

Osteogenesis Imperfecta

A

Gly —> Cys Mutation.

Disrupts the tight winding of collagen.

24
Q

Cystic Fibrosis

A

Protein misfolding

defects in cyctic fibrosis transmembrane conductance reculator (CFTR)

25
Q

Prion Disease

A

Protein misfolding
Normal prion protein —> rich in alpha helix
Abnormal prion protein –> alpha helices changed to beta sheets

Diseased prion protein is insoluble; resistant to protease & heat, are infectious

26
Q

Alzheimers Disease

A

Protein misfolding

Accumulation of beta amyloid proteins and cytoskeletal protein tau tangles –> plaque

27
Q

Parkinsons Disease

A

Protein misfolding

Lewy body accumulation in the brain

28
Q

Amyloidosis

A

Protein misfolding

Many variants

Ann's M2M Cards - weeks 1, 2 (16 decks)

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