TBL 12

Question 1

Rough ER Functions

Answer 1

• synthesis of exported proteins: mucus
• proteins for other organelles: lysosome proteins

Question 2

Smooth ER functions

Answer 2

1. storage of G6P
2. synthesis of steroid hormones ex: estrogen
3. detoxfication
4. plasma membrane maintainence

Question 3

Golgi Functions

Answer 3

1. Takes proteins from ER
   * sort proteins by destination
   * package into vesicles for transport
   * membrane lipid maintainence
   * chemical modifications (O-glycan, N-glycan, Barcode)
2. Transport Proteins
   * COPII, Clathrin, COPI

Question 4

golgi functions

transport proteins

Answer 4

• Exocytosis (Anterograde): COPII and Clathrin (ex: neuron–>Neurotransmitters, Pancreas -> digestive enzymes)
• Exocytosis (retrograde) COP I: golgi to ER (Immune cells phagocytosis, duodenum, transporter)

Question 5

mitochondria

Answer 5

double membrane organelle essential for metabolism

Question 6

lysosomes

Answer 6

• cell digestion and recycling
• low pH, many hydrolase enzymes
• impermeable membrane
• made from Golgi sorting and break off
  1. autophagy
  2. recycle biomolecules
  3. G6P stored here
  4. move lipids via fusion

Question 7

Peroxisomes

Answer 7

• contain oxidative enzymes (Beta, alpha)
• synthesizes bile and cholesterol
• catalase to eliminate H2O2

Question 8

Zellweger Spectrum disorders

Answer 8

errors in peroxisome formation due to PEX genes
1. Zellweger: low peroxisome formation
2. Infant refsum: accumulate very long chain FA

Question 9

Nucleus

Answer 9

nucleolus is where functional RNAs are transcribed and assembled

Question 10

Karyotyping

Answer 10

• visualize during metaphase
• colchicine stops in metaphase
• FISH technique

Question 11

Tay Sach’s

Answer 11

• deficient b-hexoaminidase A (HEXA mutation)
• GM2 ganglioside accumulates

Question 12

linoleic acid active lipid pathway

Thromboxanes (TXA2)

Answer 12

causes vasoconstriction and thrombosis (coagulation

Question 13

Prostaglandins (PGI2)

Answer 13

causes vasodilation and inhibits thrombosis (coagulation)

Question 14

endocannabinoids

Answer 14

Gi signaling ligands that act on CNS and PNS

Question 15

Niemann-Pick Disease

Answer 15

• enzyme missing: sphingomyelinase
• Accumulate: sphingomyelin
• Findings: cherry red spots in macula, hepatomegaly, microcephaly, intellectual delay, progressive neurodegeneration

Question 16

Gaucher’s Disease

Answer 16

• enzyme missing: glucocerebrosidase
• accumulate: glucocerebroside
• findings