ROS

Question 1

Chronic Granulomatous Disease (CGD)

Answer 1

• Defective NADPH Oxidasein phagocytes
• Inability to produce superoxide anions
• Granulomas in skin, GI tract, and Genitourinary tract
• Sx: Hoarseness & trouble breathing

Question 2

MPO deficiency

Answer 2

• decreased microbial killing
• Less hypochlorous acid produced
• Pt present with recurrent fungal infections (Candida)

Question 3

amylotrophic lateral sclerosis (ALS)

Answer 3

• Inherited mutation in Cu/Zn SOD-1 proteins
• ER stress -> Mutant SOD1 misfolds & aggregates -> accumulation inside the ER -> Neuronal cell death
• Oxidative Stress -> Impaired ability to remove ROS & RNOS species -> Increased oxidative damage -> Increased apoptosis (cell death)
• Fatal, neurodegenerative disorder: mainly affects motoneurons