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Human Disease > Finals part II > Flashcards

Finals part II Flashcards

1
Q

TDP-43 mutation

A

-accumulation in cell body of neuron(95%)

normally in nucleus

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2
Q

SOD1 mutation

A
  • Superoxide normally converted to water

- with mutation SOD1 cannot breakdown superoxide radicals

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3
Q

Treatment for ALS

A

RILUZOLE; increases uptake or clearance of glutamate from the synapse

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4
Q

Two characteristics of stem cells

A

1) unspecialized, indefinite self-renewal

2) can be induced to differentiate into specialized cells

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5
Q

3 types of stem cells

A

1) adult stem cells
2) embryonic stem cells(ES)
3) induced pluripotent stem cells(iPS)

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6
Q

Adult stem cells(somatic stem cells)

A
  • give rise to limited number of specialized cells

- normally kept in Go phase of cell cycle until activated by environment

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7
Q

Embryonic stem cells(ES)

A
  • pluripotent, taken from inner cell mass of blastocyst

- however there are issues with ES therapeutics due to immune rejection

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8
Q

Induced Pluripotent Stem cells(iPS)

A
  • Pluripotent and easy to obtain
  • use 4 transcription factors; oct 4, SOX2, Klf4, and c-Myc
  • issue with c-Myc because it is oncogenic; caused 20% of mice to develop cancer
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9
Q

Percentage of cancer caused by somatic mutations?

A

90%

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10
Q

percentage of cancer caused by germline mutation(inherited)

A

5-10%

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11
Q

Ocogenes

A
  • oncogenes result from gain of function mutation of proto-oncogenes
  • they are always on
  • receptor tyrosine kinases(RTKs)
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12
Q

Receptor Tyrosin Kinases(RTKs)

A

-misregulation could lead to cancerous growth
two examples
-dimerization of receptors causes it to be active without a binding ligand
-gene for RTK ligand always activated, independent of cell signal

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13
Q

Breast Cancer

A
  • Human EGF Receptor-2(HER2) is a type of RTK

- 30% have amplified HER2 activity

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14
Q

Treatment of Breast Cancer

A
  • HERCEPTIN; it’s a monoclonal antibody that attaches to HER2
  • it tells body to target cancer cell
  • it inhibits HER2 signaling
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15
Q

Clonal Evolution

A

-tumor develops through repeated round of mutation and proliferation giving rise to clone of fully malignant caner cell

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16
Q

Colorectal Caner

A
  • by age 70, 50% of US adults have benign polyps; approx 10% of these develop cancer
  • activation of Ras-Raf-Mek-Mrk-MAP Kinase Cascade is cause of 20% of reported colon cancer
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17
Q

ALS genetic factors

A
  • SOD1(Cu/Zn SuperOxidase Dismutase)

- Defects in Chr 21; FUS/TDS, TDP-43

18
Q

What kind of mutation in Tumor suppressors causes cancer?

A

Loss of function

19
Q

what is the normal role of tumor suppressors ?

A
  • Protect cells from becoming cancerous

- tell cell when to die

20
Q

Two types of tumor suppressors

A

1) p53

2) Rb

21
Q

What causes Leukemia?

A
  • The Philadelphia chromosome which is a result of acrocentric translocation between chromosome 9 and 22
  • this causes the fusion of Bcr and Abl genes
22
Q

Fusion of Bcr and Abl genes..

A
  • causes Bcr-Abl fusion protein

- Abl is normally a kinase, fusion causes it to be a super active kinase

23
Q

Treatment for Leukemia

A

Gleevec; targets the Bcr-Abl fusion protein, blocking the ATP binding site. Lack of ATP blocks cell proliferation signaling

24
Q

TDP-43 mutation

A

-accumulation in cell body of neuron(95%)

normally in nucleus

25
Q

SOD1 mutation

A
  • Superoxide normally converted to water

- with mutation SOD1 cannot breakdown superoxide radicals

26
Q

Treatment for ALS

A

RILUZOLE; increases uptake or clearance of glutamate from the synapse

27
Q

Two characteristics of stem cells

A

1) unspecialized, indefinite self-renewal

2) can be induced to differentiate into specialized cells

28
Q

3 types of stem cells

A

1) adult stem cells
2) embryonic stem cells(ES)
3) induced pluripotent stem cells(iPS)

29
Q

Adult stem cells(somatic stem cells)

A
  • give rise to limited number of specialized cells

- normally kept in Go phase of cell cycle until activated by environment

30
Q

Embryonic stem cells(ES)

A
  • pluripotent, taken from inner cell mass of blastocyst

- however there are issues with ES therapeutics due to immune rejection

31
Q

Induced Pluripotent Stem cells(iPS)

A
  • Pluripotent and easy to obtain
  • use 4 transcription factors; oct 4, SOX2, Klf4, and c-Myc
  • issue with c-Myc because it is oncogenic; caused 20% of mice to develop cancer
32
Q

Percentage of cancer caused by somatic mutations?

A

90%

33
Q

percentage of cancer caused by germline mutation(inherited)

A

5-10%

34
Q

Ocogenes

A
  • oncogenes result from gain of function mutation of proto-oncogenes
  • they are always on
  • receptor tyrosine kinases(RTKs)
35
Q

Receptor Tyrosin Kinases(RTKs)

A

-misregulation could lead to cancerous growth
two examples
-dimerization of receptors causes it to be active without a binding ligand
-gene for RTK ligand always activated, independent of cell signal

36
Q

Breast Cancer

A
  • Human EGF Receptor-2(HER2) is a type of RTK

- 30% have amplified HER2 activity

37
Q

Treatment of Breast Cancer

A
  • HERCEPTIN; it’s a monoclonal antibody that attaches to HER2
  • it tells body to target cancer cell
  • it inhibits HER2 signaling
38
Q

Clonal Evolution

A

-tumor develops through repeated round of mutation and proliferation giving rise to clone of fully malignant caner cell

39
Q

Colorectal Caner

A
  • by age 70, 50% of US adults have benign polyps; approx 10% of these develop cancer
  • activation of Ras-Raf-Mek-Mrk-MAP Kinase Cascade is cause of 20% of reported colon cancer
40
Q

ALS genetic factors

A
  • SOD1(Cu/Zn SuperOxidase Dismutase)

- Defects in Chr 21; FUS/TDS, TDP-43

Human Disease (3 decks)

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