Week 1 Flashcards
Collagen Biosynthesis Disorder Type 1 Diseases?
Osteogenesis Imperfecta and Ehlers-Danlos
What can Osteogenesis Imperfecta lead to?
Dentinogenesis Imperfecta Type 1
Discolored and broken down enamel and structure.
Collagen Biosynthesis Disorder Type II Diseases?
Skeletal Displasia, vitreous abnormalities, hearing impairment
Osteogenesis Imperfecta symptoms?
Curved long bones that are weak leading to deformed body
What type of collagen is needed to endochondral/long bone ossification and what results in the body?
Type II- Short bones/dwarfism, underdeveloped jaw, cleft palates, Pierre robin sequence, stickler syndrome, retina detachment and blindness
Collagen Biosynthesis Disorder Type III Diseases?
Keloid formation and Elher Danlos type IV
Collagen Biosynthesis Disorder Type IV Diseases?
Goodpasture Syndrome aka producing antibodies against collagen in lungs and kidneys
Alport Syndrome
Loss of kidney function and hearing
Epidermolysis Bullosa- fragile and blistering skin
Tissue that collagen type I is found in?
Bone skin and tendons
Tissues that collagen type II is found in?
Cartilage and vitreous humor
Tissues that collagen type III is found in?
Blood vessels and granulation tissue
Tissues that collagen type IV is found in?
Basement membranes
How does Vit C affect collagen?
Needed for the for the hydroxylation of procollagen side chains. Deficiency of vit c results in insufficient hydroxyproline and no cross linking of of collagen fibrils = scurvy
Symptoms of scurvy?
Gingival swelling, rash/mucocutaneous petechiae, poor wound healing, peri follicular papules, edema of lower limbs
Bleeding into joint cavities/hemarthrosis
Brittle bones
Elastin?
Connective tissue in lungs skin ligaments and arteries
No hydroxylysine making it more elastic
What is alpha antitrypsin?
It inhibits elastase that breaks down elastin
When elastin is broken down lungs are less elastic/emphysema
What are plasma proteins?
Made in liver and balance pH
More later
What is hemoglobin?
In red blood cells only Carries oxygen 4 hemes Hb binds CO2 in blood Sickle cell anemia is mutation in it
Myoglobin details
In heart and skeletal muscles
1 heme
Stores O2
Carrier of O2
Pneumonic to memorize essential amino acids?
PVT TIM HALL
Phenylalanine
Valine
Threonine
Tryptophan
Isoleucine
Methionine
Histidine
Arginine (only during growth/positive nitrogen balance)
Leucine
Lysine
5 physiologically relevant proteins?
Collagen, elastin, plasma proteins, hemoglobin, myoglobin
What are inhibitors of prokaryotic protein synthesis?
Streptomycin Erythromycin Clindamycin Tetracycline Chloramphenicol
What are inhibitors of eukaryote protein synthesis
Cycloheximide
Diphtheria toxin
Pseudomonas toxin
What happens when a baby if given to much chloramphenicol?
Grey baby syndrome
They don’t have an enzyme to metabolize excess
Blue lips and ashen grey skin
Xeroderma pigmentosum
Defective nucleotide excision repair
Can’t fix DNA damage from sun
Burns tumors photophobia in eyes with pink eye