Lecture 8: Ion channels in disease

Question 1

Retinitis pigmentosa

Answer 1

• heterogenous disorders
• mutation in PDE production
• degeneration of photoreceptors and RPW
• night blindness, tunnel vision pigmented spots in the retina

Question 2

CNGA1 mutation

Answer 2

right shift of activity curve
reduced current at the same concentration but function activity and sensitivity is still the same
number of channels reduced, reduces traffic/targeting

Question 3

diabetes

Answer 3

• elevated blood glucose more in the cell
• metabolism leading to high ATP
• high ATP deactivates ATP. dep channels
• membrane depolarization
  -open voltage dependent Ca2+ channel, increased intra cellular Ca+2 causing realease of insulin vesicles