Misc.

Question 1

The good transcription factor: Name 3 diseases PPARγ is involved in where TZD (PPARγ agonist) is a possible treatment.

Answer 1

1) NASH/liver fibrosis: targets hepatic stellate cells (HSCs)
2) Diabetes: increases GLUT4 expression
3) Alzheimer’s disease (AD): targets nuclear receptors of M2 macrophages/microglia

Question 2

Molecular genetics of lung cancer: Name 3 mutations that lung cancer patients are positive for.

Answer 2

1) EGFR: Treat with tyrosine kinase inhibitor (TKIs) - erlotinib, gefitinib.
2) ALK rearrangements: TKIs - crizotinib.
3) ROS1 - crizotinib

These three mutations are used in screening panel.

Question 3

Molecular genetics of lung cancer: Name three strategies to identify novel mutations.

Answer 3

1) Whole genome sequencing: Most comprehensive, however difficult to identify driver and high cost.
2) Exome sequencing: Cost efficient, but limited to known exons, missing non-coding regulatory mutations.
3) Whole transcriptome sequencing: Analyze expressed RNA. Identifies novel exons and structural mutations such as fusions. Highest error rate and can be affected by RNA base editing.