Enzymes

Question 1

Enzyme

Answer 1

is a biological catalyst in living organisms by regulating the rate at which chemical reactions proceed without itself being altered

Question 2

Protein

Answer 2

tertiary structure

bind to and transform specific substrates, playing vital roles in metabolism and physiological processes

Question 3

Catalysts

Answer 3

Accelerate biochemical reactions. Vital roles in metabolism and physiological processes

Question 4

Enzymes and temperature

Answer 4

an increase in temperature increases the rate of chemical reaction

but an enzyme can only get so hot before its hydrogen bonds break, or denature

Question 5

Optimal temp for enzymes

Answer 5

37 degrees celsius

Question 6

Enzymes and pH

Answer 6

a healthy stomach pH is 1.5-3.5
a healthy mouth pH is 5.6-7.9

pepsin has an optimal pH of 2

Amylase has an optimal pH of 7

Question 7

Enzyme replacement therapy

Answer 7

medical treatment that replaces a deficient or absent enzyme

used to treat rare genetic disorders by directly replacing the missing or deficient enzymes

certain genetic disorders can result in the body’s in ability to produce or properly utilize essential enzymes

Question 8

Conditions treatable with ERT

Answer 8

Genetic enzyme deficiencies

Lysosomal storage disorders

Muscopolysaccharidoses

Question 9

ERT for LSDs

Answer 9

periodic IV administration of specific enzymes produced with recombinant DNA technology

first LSD therapy for use in humans approved in 1990

Question 10

LSDs

Answer 10

typically present in infancy and childhood, although adult-onset forms also occur

Question 11

Cerezyme for Gaucher Disease

Answer 11

caused by mutations in GBA1 gene, leading to deficiency of glucocerebrosidase

IV

Question 12

Fabrazyme for Fabry disease

Answer 12

mutation in the GLA gene which makes alpha-galactosidase A, an enzyme responsible for breaking down the fatty molecule Gb3 or GL-3

unable to break down Gb3

Question 13

Muscopolysaccharidoses

Answer 13

Laronidase, Idursulfase, Elosulfase alpha, Galsulfase, Vestronidase alpha-Mucopolysaccharidoses

Question 14

Challenge’s with ERT

Answer 14

Very expensive

frequent infusions

short in vivo half life

lack of target-ability

potential immune reactions

possible infusion complications

Question 15

ERT targeting and delivery

Answer 15

Enzymatic modifications

Nanoparticle carriers

Viral vector delivery

Question 16

Goals of gene therapy

Answer 16

Gene transplantation/addition

Gene correction/editing

Gene augmentation

Gene deletion/ablation

And targeted killing