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Results

actin 37 Olig237

Control Tsc1

Δ/Δ

52 Glc

G-6-P

F-6-P F-1,6-BP

G-3-P DHAP

G-1,3-BP 3-PGA 2-PGA

PEP Pyr

G-1-P

Glycolysis

6-PGL 6-PG

Ru-5-P X-5-P

Ri-5-P

S-7-P E-4-P

G-3-P 0

1 2 3 4 5

**

0.0 0.2 0.4 0.6 0.8

Lactate

0.0 0.1 0.2 0.3 0.4

0.5

***

0.0 0.2 0.4 0.6

0.8

**

0.00 0.05 0.10 0.15 0.20

0.0 0.2 0.4 0.6

0.8

***

Pentose Phosphate Pathway

Glycogen

0.0 0.1 0.2 0.3 0.4

0.5

***

UDP-Glc

0 1 2

3

*

Control Ser

Tsc1Δ/Δ nd: not detected

n = 3

nd

nd

nd

nd

nd

nd

nd

nd

nd

0 2 4 6

0.0 0.5 1.0

1.5

*

0.00 0.05 0.10 0.15

0.20

**

0.00 0.02 0.04 0.06

0.08

**

0.0 0.2 0.4

0.6

**

Figure 6. Metabolomics Analysis. Scheme showing quantitation of changes to metabolites in the pentose phosphate and glycolysis pathways that were associated with Tsc1 deletion in huKO+ cells. Control and Tsc1-deficient cells were cultured without EGF+FGF2 and subjected to quantification of metabolites. Data for each metabolite are the mean ratio ± SD relative to the value in control cells.

53

0 2 4

6 **

0 1 2 3 4

**

0.0 0.5 1.0 1.5 2.0

2.5 ***

n = 3 n = 3 n = 3

Slc2a1/Actin mRNA (relative fold) Hk2/Actin mRNA (relative fold) Pkm2/Actin mRNA (relative fold)

Control Tsc1Δ/Δ Control Tsc1Δ/Δ Control Tsc1Δ/Δ

Figure 7. Gene expression analysis of Glycolysis associated genes. qRT-PCR analysis of Glut1, Hk2, and Pkm2 mRNA levels in the control and Tsc1-deficient cells. Data were normalized to b-actin and are presented as the mean fold change ± SD relative to control cells.

54

0 50 100

150 n = 5

***

OCR (pmoles/min/10 4 cells)

Control Tsc1 Δ/Δ

Figure 8. Effects of Tsc1 deficiency on oxygen consumption in mouse glioma cells. Quantitation of OCR by control and Tsc1-deficient cells cultured without EGF+FGF2. Data are the mean ± SD.

55

Figure 9. Mitochondrial associated genes levels in control and Tsc1 deficient mouse glioma cells. qRT-PCR analysis of Atp5g1, Cox5a1, and cytochrome c mRNA levels. Data are the mean fold change ± SD relative to control cells.

0.0 0.5 1.0 1.5 2.0

***

0.0 0.5 1.0 1.5

2.0 **

0.0 0.5 1.0

1.5 **

n = 3 n = 3 n = 3

Atp5g1/Actin mRNA (relative fold) Cox5a1/Actin mRNA (relative fold) Cycs/Actin mRNA (relative fold)

Control Tsc1Δ/Δ Control Tsc1Δ/Δ Control Tsc1Δ/Δ

56

Figure 10. Effects of Oligomycin treatment ATP levels in control and Tsc1 deficient mouse glioma cells. Quantitation of intracellular ATP levels in control and Tsc1-deficient cells that were cultured without EGF+FGF2 and treated with the ATP synthetase inhibitor oligomycin for 12 hr. Data are the mean fold change ± SD relative to control cells.

0.0 0.5 1.0

1.5 ***

***

n = 3

Intracellular ATP level (relative fold)

0

Oligomycin (µM)

20

57

0 50 100 150

200 **

***

n = 3

F

Oligomycin (µM)

Sphere number/300 cells no spheres no spheres

0 0.1 0.5 1.0

Control Tsc1

Δ/Δ

Figure 11. Effects of Tsc1 deficiency and Oligomycin treatment on sphere formation in mouse glioma cells. Quantitation of sphere formation by control and Tsc1-deficient cells that were cultured without EGF+FGF2 and treated with the indicated concentrations of oligomycin. Data are the mean ± SD.

58

Figure 12. Drug screening for small molecule compounds that have a greater growth inhibitory effect on Tsc1-deficient glioma cells than on control cells. The "Index for drug sensitivity of Tsc1-deficient glioma cells"

(see Experimental Procedures) for 1,301 compounds is shown. Control and Tsc1-deficient cells were treated with the indicated small molecule compounds, followed by analysis of cell viability 48 hr later ( ;1/500, ;1/2,000 or ;1/10,000 dilution).

Index for drug sensitivity of Tsc1Δ/Δ

0.5 1.0 1.5 2.0 2.5 3.0 10 12 14 16 18 20

Rottlerin

Pentamidine A23187

Nigericin

Valinomycin

Nifidipine Auranofin Moxifloxacin

Clodronic acid

Cyclosporin Amoxapine

Minocycline Clindamycin

59

Control Tsc1Δ/Δ

Figure 13. Examples of EGFR "drug-resistant" profiles. Quantitation of relative viability of control or Tsc1-deficient cells that were cultured without EGF+FGF2 and treated with the indicated concentrations of the indicated drugs. Data are expressed as the mean % cell viability relative to untreated controls.

60

Control Tsc1Δ/Δ

Figure 14. Examples of Genotoxic agents "drug-resistant" profiles.

Quantitation of relative viability of control or Tsc1-deficient cells that were cultured without EGF+FGF2 and treated with the indicated concentrations of the indicated drugs. Data are expressed as the mean % cell viability relative to untreated controls.

61

0 0.64

µM 3.18

µM 12.74

µM 50

100 150

Amoxapine

cell viability (%)

0 0.95

µM 4.77

µM 19.1

µM 50

100 150

A23187

cell viability (%)

0 0.29

µM 1.47

µM 5.89

µM 50

100 150

Auranofin

cell viability (%)

0 0.43

µM 2.16

µM 8.66

µM 50

100 150

Clindamycin

cell viability (%)

0 0.81

µM 4.08

µM 16.3

µM 50

100 150

Clodronic acid

cell viability (%)

0 1 µM

5 µM 20 µM 50

100 150

Cyclosporin

cell viability (%)

0 0.43

µM 2.18

µM 8.7 µM 50

100 150

Minocycline

cell viability (%)

0 0.45

µM 2.28

µM 9.13

µM 50

100 150

Moxifloxacin

cell viability (%)

0 1.4 µM

7.2 µM 28.8

µM 50

100 150

Nifidipine

cell viability (%)

0 0.69

µM 3.45

µM 13.8

µM 50

100 150

Nigericin

cell viability (%)

0 1 µM

5 µM 20 µM 50

100 150

Pentamidine

cell viability (%)

0 1 µM

5 µM 20 µM 50

100 150

Rottlerin

cell viability (%)

0 0.44

µM 2.2 µM

8.9 µM 50

100 150

Valinomycin

cell viability (%)

Control Tsc1Δ/Δ

Figure 15. Examples of "drug-sensitive" profiles. Quantitation of relative viability of control or Tsc1-deficient cells that were cultured without EGF+FGF2 and treated with the indicated concentrations of the indicated drugs. Data are expressed as the mean % cell viability relative to untreated controls.

62

Figure 16. Effect of selected small molecule compounds on ATP levels of mouse glioma cells. Quantitation of the effects of the indicated small molecule compounds on ATP levels in control and Tsc1-deficient cells that were treated with the indicated compounds at the indicated concentrations.

Cells were treated for (6 hr) was followed by analysis of intracellular ATP levels. Data are the mean ratios ± SD relative to untreated control cells.

Statistical analyses were performed to detect differences between control and Tsc1-deficient cells at each drug concentration.

A23187 (µM)

Auranofin (µM) Rottlerin (µM)

Valinomycin (µM) Nigericin (µM) Intracellular ATP level (relative fold)

n=5

0.0 0.4 0.8 1.2

0 1 5 10 20 50

n=5

Intracellular ATP level (relative fold) 0.0 0.4 0.8 1.2

0 1 5 10 20 50

Intracellular ATP level (relative fold) Intracellular ATP level (relative fold)

Intracellular ATP level (relative fold)

0.0 0.4 0.8 1.2

0 1 5 10 20 50

n=5

0.0 0.4 0.8 1.2

0 1 5 10 20 50

n=5

0.0 0.6 1.2 1.8

0 1 5 10 20 50

n=5

Control Tsc1Δ/Δ

***

*** **** ***

ns **** **** **** ****

****

**

*** **** ****

**

**** ***

**** **** ****

***

****

**** **** ****

**

63 A23187 (µM)

Auranofin (µM) Rottlerin (µM)

Valinomycin (µM) Nigericin (µM)

Sphere number/500 cells

n=4

0 50 100 150

0 0.01 0.05 0.1 0.5

n=4

Sphere number/500 cells 0 50 100 150

0 0.01 0.05 0.1 0.5 1

n=3

Sphere number/500 cells 0 50 100 150

0 0.01 0.050.1 0.5 1

n=4

Sphere number/500 cells 0 50 100 150

0 0.01 0.05 0.1 0.5 1

n=4

Sphere number/500 cells 0 50 100 150

0 0.01 0.05 0.1

Control Tsc1Δ/Δ

****

****

**** no spheres **** no spheres no spheres no spheres

****

ns ns nsns ns

ns nsns

ns

****

****

****

** ***

ns ns

ns

no spheres no spheres

ns nsns

*** ns

****

**** no spheres no spheres no spheres

**** no spheres **** no spheres no spheres no spheres

Figure 17. Effect of selected small molecule compounds on sphere-forming ability of control and Tsc1-deficient glioma cells. Quantitation of the effects of the indicated small molecule compounds on sphere formation in control and Tsc1-deficient cells that were treated with the indicated compounds at the indicated concentrations. cells were cultured to allow sphere formation. Data are the mean sphere number ± SD. Statistical analyses were performed to detect differences between treated and untreated cells at each drug concentration.

64

Intracellular ATP level (relative fold) Intracellular ATP level (relative fold)

Intracellular ATP level (relative fold) Intracellular ATP level (relative fold)Intracellular ATP level (relative fold)

A23187 (µM) Auranofin (µM)

Rottlerin (µM) Valinomycin (µM)

Nigericin (µM)

0 1 5 10 20 50

0.0 0.5 1.0

1.5 n=3

0 0.5 1 2 5 10

n=3

0.0 0.5 1.0 1.5

n=4

0.0 0.5 1.0 1.5

0 1 5 10 20 50

n=4

0.0 0.5 1.0 1.5

0 1 5 10 20 50

n=6

0 1 5 10 20 50

****

ns

**** **** ****

ns

****

**** **** ****

****

**** ****

**

ns

**** **** **** ****

****

ns ns

****

** **

Figure 18. Effects of selected small molecule compounds on ATP levels on human patient-derived TGS-01 glioma cells. Quantitation of intracellular ATP levels in human GBM patient-derived TGS-01 cells that were treated with the indicated concentrations of the indicated compounds for 6 hr. Data are the mean fold change ± SD relative to untreated control cells.

65

Nigericin (5 µM) A23187 (5 µM) Auranofin (20 µM)

Rottlerin (5 µM) Valinomycin (10 µM)

0 102 103 104 105 JC10 (PE)

% of Max% of Max

0 102 103 104 105

JC10 (PE) 0 102 103 104 105 JC10 (PE)

0 102 103 104 105

JC10 (PE) 0 102 103 104 105 JC10 (PE)

Figure 19. Effects of selected small molecule compounds on mitochondrial membrane potential on TGS-01 human patient derived glioma cells. Analysis of mitochondrial membrane potential in TGS-01 cells that were treated for 30 min with the indicated concentrations of the indicated compounds, followed by determination of mitochondrial membrane potential using JC-10. Representative flow cytometric data for cells with (red line) or without (blue line) drug treatment are shown.

66

Figure 20. Effects of selected small molecule compounds on oxygen consumption rate. Quantitation of changes in OCR in AGS cells that were treated first with oligomycin to inhibit ATP synthetase activity and then with DMSO (vehicle control), nigericin (1 µM) or valinomycin (1 µM) (n=3).

Data are mean %± SD of OCR (n=3).

0 50 100 150 200

0 50 100 150

Time (min)

OCR %

Oligomycin Compound FCCP Antimycin A

DMSO Nigericin Valinomycin

67

Figure 21. Therapeutic potential of nigericin for treatment of human GBM in vitro.Quantitation of sphere formation by (left) TGS-01 and (right) TGS-04 human patient-derived GBM cells that were treated with the indicated concentrations of nigericin. Data are the mean sphere number ± SD.

Sphere number/500 cells

150

50 100

0 0 0.1 0.5 Nigericin (µM)

0 0.5 Nigericin (µM)

Sphere number/500 cells

n=3

no spheres

n=3 150

50 100

no spheres 0

****

68

G0/G1 S G2/M

0 20 40 60 80 100

% Cell cycle

*

DMSO

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