BMS42 - Targeting Cellular Processes To Treat Disease
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Summary BMS42 - Targeting Cellular Processes to Treat Disease
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BMS42 - Targeting Cellular Processes To Treat Disease
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Radboud Universiteit Nijmegen (RU)
Summary BMS42 - Targeting Cellular Processes to Treat Disease, including lectures and self study assignments (e.g. summary of articles, an iRAT, summary of certain chapters of different books)
BMS42 - Targeting Cellular Processes To Treat Disease
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Renske de Veer (rdeveer)
Summary Targeting cellular processes to treat disease
1. Lectures
Lecture 1. Mitochondrial disorders
Mitochodrial function and disease
Mitochondria play a role in many processes:
- Urea cycle, CAC, Fatty acid oxidation, heme biosynthesis, ATP synthesis, apoptosis, ROS
formation, heat generation, electrical signals, calcium handling
- Due to wide variety of functions, many diseases are linked to mitochondrial dysfunction
o Mitochondrial disease: group of genetically determined metabolic diseases. High
morbidity and mortality, but no treatment. Heterogeneous multi-system. Low
prevalence, rare disease.
- Mitochondrial functioning requires between 1000 -1500 genes:
o mtDNA properties:
▪ 16569 bp
▪ 37 genes: 28 heavy strand, 9 light strand
▪ 13 proteins
▪ 22 tRNA’s
▪ 2 subunits of mitochondrial ribosome
Red blood cells don’t have mitochondria
Cristae: increase surface of inner membrane
ATP (energy) production:
, Renske de Veer (rdeveer)
Increased lactate → acidosis. When there is mitochondrial dysfunction, pyruvate will be converted to
lactate instead of going into the mitochondria for TCA cycle.
Coenzyme Q: oxidant, takes up electrons.
Transport of protons to the outside: Inside of mitochondria has a higher pH compared to the outside,
inside will become negatively charge en outside positively charged
➔ Proton motive force results in protons re-entering the mitochondria.
➔ Electron chemical gradient.
TIM and TOM are translocators from inner and outer membrane respectively.
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