Diseases IR WEEK 3

Question 1

This disease is caused by deletions of a genetic region that includes the small ribonucleoprotein polypeptide N gene
Maternal copy of gene is silenced

Answer 1

PRADER WILLI SYNDROME

Question 2

This disease is caused by loss of expression of a single maternally expressed gene in the same region called UBE3A

Answer 2

ANGELMAN SYNDROME

Question 3

embryonic proteins that are re expressed during the development of a tumor are called

Answer 3

oncofetal antigens

Question 4

peripheral and sensory motor nerves lose ability to transmit nervous impulses. 40 genes involved leading to damage in myelin sheath around peripheral nerves; different inheritance patterns. most common duplication of a region on chromosome 17p

Answer 4

Charcot-Marie-Tooth disease

Question 5

CNS demyelinating disease, considered autoimmune. myelin is affected, so no nervous impulses; typically motor neurons

Answer 5

multiple sclerosis

Question 6

a congenital disorder that results in defects in the structure of the golgi apparatus; mutation in the TRIP11 gene; affects cartilage and skeletal development

Answer 6

Achondrogenesis

Question 7

sensorineural hearing loss with A-to-G mutation of the mitochondrial DNA

Answer 7

DEAF 1555

Question 8

deafness or stroke or diabetes

Answer 8

MELAS 3242

Question 9

optic neuropathy

Answer 9

LHON

Question 10

myotonic epilepsy and ragged-red fiber disease

Answer 10

MERRF

Question 11

Leighs encephalopathy

Answer 11

NARP 8993

Question 12

Alz’s disease, parkinsons

Answer 12

ADPD 4336

Question 13

What does the gene network/region consist of?

Answer 13

activator and coactivator, regulatory sequence, associated proteins, promoter region, transcription factors, RNA polymerase, the gene itself, and chromatin remodeler’s

Question 14

what are the diseases caused by PrP*

Answer 14

mad cow disease
creutzfeld-jacob disease
scrapie
spongiform encephalopathy

Question 15

these vesicles transport from the Golgi to the plasma membrane

Answer 15

Clathrin

Question 16

these vesicles transport from the ER to the Golgi

Answer 16

COPI, COPII

Question 17

COPII transport from

Answer 17

ER to Golgi

Question 18

COPI transport from

Answer 18

Golgi to ER

Question 19

has no ribosomes and is located in cells that specialize in lipid metabolism, such as cells that synthesize steroid hormones from cholesterol

Answer 19

sER

Question 20

a chaperone protein that stays in the ER lumen that can hold a protein for degradation

Answer 20

BIP

Question 21

required to force lipid bilayers closed and expel water

Answer 21

t-SNARE and v-SNARE

Question 22

this protein is first required to pry v-SNARE and t-SNARE apart

Answer 22

N-ethylmaleimide sensitive factor, NSF

Question 23

proteins are excreted instead of going to lysosomes; a type of lysosomal storage disease since no hydrolases in lysosomes

Answer 23

inclusion cell disease

Question 24

deletion of obsolete cell parts via lysosomal digestion

Answer 24

autophagy

Question 25

operates continuously in unpolarized cells (fibroblasts, WBCs), no signals required for proteins to leave

Answer 25

constitutive secretory pathway

Question 26

in cells that secrete proteins rapidly to different domains of the cell surface; more complex

Answer 26

regulated secretory pathways

Question 27

Complex 1

Answer 27

NADH dehydrogenase

Question 28

Complex II

Answer 28

succinate dehydrogenase

Question 29

Complex III

Answer 29

cytochrome c reductase; cytochrome b-c1 complex

Question 30

Complex IV

Answer 30

cytochrome C oxidase

Question 31

Complex V

Answer 31

ATP Synthase