Test 1 Lecture 1 Flashcards
chemical reactions and enzymes that convert glucose to pyruvate (glycolysis) to ethanol and CO2 (frementation)
Phosphorylated sugars
What are coenzymes?
vitamin-derived cofactors
What are the types of coenzymes?
thiamine pyrophosphate, riboflavin, coenzyme A, coenzyme Q (lowers statins), cobamide coenzyme
What is the importance of biochem for healthcare?
- understanding and maintenance of health
- effective treatment of disease
all chemical processes that occur in an organism
metabolism
What are examples of metabolism?
- glucose homeostasis
- DNA replication, RNA splicing
glycolytic enzyme, glucose transporters, glycogen synthetases, disaccharidases, gluconeogenic enzymes
glucose homeostasis
What are the types of error that can occur in genetic metabolic processes?
- gene deletion
- frameshifts
- sequence mutations
termed inborn errors of metabolism
inherited or congenital disorders that are due to a defective enzyme causing a disruption in a specific metabolic pathway, the way that DNA or the genes communicate
What is the central dogma?
What is sickle cell anemia
- autosomal recessive homozygous
- Glutamic acid codon (GAG) to a valine codon (GTG)
- mutated gene is hemoglobin beta (HBB), located on chromosome 11
- causes the body to produce a new hemoglobin HbS which behaves differently than HbA
- Causes the cell to sickle
What is familial hypercholesterolemia?
- very high levels of low- density lipoprotein (bad cholestrol)
- common
- mutation in the LDLR gene encodes LDL receptor protein which removes LDL from circulation
Who does Familial hypercholesterolemia affect?
-heterozygote (recessive) for LDLR gene can lead to cardiovascular disease by the age of 30 to 40
- Homozygotes ( dominant) causes severe cardiovascular disease in childhood may lead to heart attack or death by 30
unrestrained, uncontrolled growth of cells, failure of cell cycle control
cancer
What are the two kinds of genes that disturb the cell cycle when mutated?
- tumor-suppressor genes
- Proto-oncogenes
What are the tumor suppressor genes?
P53 protein
retinoblastoma susceptibility gene (first tumor suppressor identified)
protein that monitors integrity of DNA
p53 protein
If DNA is damaged what do enzymes and p53 do to the DNA?
-repair enzymes are stimulated
- if DNA damage is irreparable, p52 directs cell to kill itself
What must occur for the cancerous phenotype to develop?
both copies of the tumor-suppressor gene must lose function
_ is absent or damaged in many cancerous cells
p53
predisposes individuals for a rare form of cancer that affects the retina of the eye
Retinoblastoma susceptibility gene
normal cellular genes that become oncogenes when mutated
proto-oncogenes
What can oncogenes cause?
cancer
Proto-oncogenes can encode for?
- receptors for growth factors
- signal transduction proteins