Proteins

essential amino acids

phenyalanine, valine, threonine, tryptophan, isoleusine, methionine, histidine, arginine, leucine, lysine

wobble hypothesis

explains why multiple codons can code for a single amino acid

why is the wobble hypothesis impactful

allows for flexibilty in case mutation occurs at the third position

how does protein folding impact function

structure is related to function

glycosylation

addition of carbohydrate to protein

disulfide bond

di-sulfide bridge formed between two cysteine residues

hydroxylation

addition of hydroxyl group, involved in protein crosslinking

collagen type I associated diseases

Osteogenesis imprefecta, Ehlers Danlos

collagen type I tissue

bone, skin, and tendons

collagen type II tissue

cartilage, vitreous humor

collagen type II associated diseases

skeletal dysplasia, vitreous abnormalities, hearing impairment

collagen type III tissue

blood vessels and granulation tissue

collagen type three associated diseases

keloid formation and ehlers-danlos (type IV)

collagen type IV tissues

basement membranes

collagen type IV associated diseases

goodpasture syndrome, alport syndrome, epideremolysis bullosa

osteogenesis imperfecta symptoms

body deformity, curved long bones, and easy fracture

destinogenesis imperfecta (associated with osteogenesis imperfecta) symptoms

translucents teeth, discolored teeth, weakened enamel and enamel hypoplasia

ehlers-danlos symptoms

joint hypermobility, cutaneous fragility, hypertensibilty

skeletal dysplasia symptoms

short stature, retnal detachment, blindness, cleft palate, jaw hypoplasia

keloid formation symptoms

abnormal wound healing and scar formation

goodpasture syndrome

antibodies produced against collagen in lungs and kidneys

alport syndrome symptoms

loss of kidney function and hearing

epidermolysis bullosa symptoms

fragile, blistering skin

why is vitamin C important for collagen formation

aids in hydroxylation which is necessary for the formation of collagen

elastin

connective tissue protein in lungs, skin, ligaments, and arteries

elastase

enzyme that breaks down elastin

a1-Antitrypsin

inhibits elastase

plasma proteins

acts as buffer to stabilize pH

hemaglobin

carries oxygen in red blood cells

myoglobin

stores oxygen in muscle

example of disulfide bonding

formation of mature insulin

example of hydroxylation

formation of collagen

example of glycosylation

aids in crosslinking of collagen

result of deficiency of a-antitrypsin

neutrophil elastase destroys lung (emphysema)

what causes gray baby syndrome

inability to break down administered chloramphenicol

what causes sickle cell anemia

misfolding of beta-globulin

oral manifestations of sickle cell anemia

changes in superficial tongue cells, tissue discoloration, weak enamel

what is the result of protein misfolding

accumulation of amyloids and subsequent neurodegenerative diseases

what causes scurvy

vitamin C deficiency

symptoms of scurvy

gingival swelling, poor wound healing, perifollicular papules

type II

which type of collagen causes skeleetal dysplasia associated with pierre robin sequence