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Flashcards in Make Biochem MY BITCH Deck (101)
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1

What are the classical and vascular types of Ehlers Danlos syndrome

Classical is joint hypermobility adn seen with mutaiton in type V collagen

Vascular is vascular and organ rupture and see deficient Type III collagen

1

What is going in on uniparental disomy?

Whats dif between Heterodisomy and Isodisomy

offspring gets 2 copies of chrom from 1 parent,none from other:

Herodisomy = meiosis I error 

Isodisomy = meisosis II error

2

What do we treat a pt with HGPRT deficiency with?

 

allopurinol (or febuxostat would be second line)

2

Explain structure of cilia and the disease caused by Dyenin arm defect

9+2 arrangement of microtubles; axonemal Dynein-ATpase likns peripheral 9 doublets--> see bending of cilium by sliding

Kartageners: immotile cilia d/t dyenin arm defect: intertility (dsfnx sperm and dsfnx fallopian tube), bronchiectasis, recurrent sinusitus, situs inversus

2

RLS in Urea cycle

Carbomyl Phostphate Synthetaes I

+ N-acetylglutamate

3

What are the 3 steps for Elongation in protein synthesis

1. Aminoacyl tRNA binds to Asite (excpet for initator methionine)

2. rRNA catalyxes peptide bond formation, transfers growing polypeptide to AA in the A site

3. Ribosome advances 3 NTs toward the 3' end of mRNA, moves the tRNA to the p site

3

RLS in Glycogenesis

Glycogen Synthase

+ Glucose-6-P, +insulin, +cortisol

-glucagon, -Epi

5

Key steps in Protein synthesis during Initiation

Initiated by GTP hydrolysis and initiation factors put together the 40S ribosomal unit with the initiator tRNA--> then released when mRNA and ribosomal 60S assemble with them

= 80S

6

RLS in Cholesterol Synthesis

HMG-CoA reductase

+insulin, +thyroxine

-Glucagon -Cholesterol

8

Enz Deficiency responsible for SCID causing excess ATP and dATP imbalance in the nucleotide pool

Adenosine Deaminase: causes feedback inhibition on ribonucleotide reductase thus decrease DNA synthesis

9

RLS in ketogenesis

 

HMG-CoA synthase

10

Stain for the following

CT

Muscle

Epithelial cells

NeuroGlia

Neurons

Vimetin = CT

DesMin = Muscle

Cytokeratin= epithelial cell

GFAP = Neuroglia

Neurfilaments = Neurons

10

What happens when we increase ethanol metabolism in regards to NADH/NAD+

 

Will increase NADH/NAD+ ratio in liver; leads to

Pyruvate --> malate (lactic acidosis)

OXA--> malate (prevents gluconeogenesis = fasting hypoglycemia)

Glyaldehyde-3-P --> Glylcerol-3-P (causes hepatosteatosis)

11

Site of synthesis of secreatory proteins and N-linked oligosacharides addition to proteins

vs

unattached and synthesis of cytosolic and organellar proteins

vs

synthesize and secreate peptide NTs for secreation

 

Rough Endoplasmic reticulum

Free ribosomes

Nissl bodies

12

Amino Acids necessary for PURINE synthesis

Purines make me GAG: glysine, Aspartate, Glutamine

12

RLS in FA synthesis

 

Acetyl-CoA Carboxylase (ACC)

+insulin, +citrate

-Glucagon -Palmitoyl CoA

13

EnZ takes Ethanol--> Acetaldehyde

EnZ takes Acetaldehyde--> Acetate

What drugs inhibit these enZ

Ethanol --> Acetaldehyde via Alcohol Dehydrogenase and inhibited by Fomepizole

Acetaldehyde--> Acetate via Acetaldehyde Dehydrogenase and inhibited by Disulfiram

 

 

14

EnZ deficiency responsible for SCID

Adenosine Deaminase deficiency

15

What makes rRNA, mRNA and tRNA and what does alpha-amanitin do?

RNA pol I = rRNA

RNA pol II = mRNA (inhibited by alpha amanitin from mushrooms=hepatotoxic)

RNA pol III= tRNA

*prokaryones only have 1 RNA polymerase that makes all these

16

Prokaryotic only, degrades RNA primers and replaces them with DNA; can excise in 5'--3' direction

DNA polymerase I

16

Differences in following mutations;

Silent

Missense

Nonsense

Frameshift

silent: NT substitute for codes for same AA; often in 3rd position (tRNA wobble)

MIssense: NT substitution in changed AA (like in SS disease)

Nonsense: NT substitution that codes for early stop (UAG, UGA, UAA)

Frameshift: Deletion or insertion resulting in misreading of downstream NTs; get truncated shitty protein

17

normally inhibit G1 to S progression, mutation here results in unrestrained cell division

p53 and Rb

18

What is the start codon and what does it code for?

What are the stop codons?

 

Start = AUG; codes for methionine

Stops: UAA, UGA, UAG

19

RSL in De novo pyrimidine synthesis

Carbamoyl Phosphate Synthetase II

20

Difference between Indirect and Direct ELISA

Indirect: uses test antigen to see if a specific antibody is present in the pts blood; a secondar antiB coupled to color generating enZ is added to detect first antibody

Direct: uses a test antibody to see if specific antiG present in pts blood; secondary antoB coupled to color generating enZ to detect it

21

RLS in Glycogenolysis

Glycogen Phosphorylase

+Epi, +Glucagon +AMP

-G-6-P, - insulin, -ATP

22

3 yo child comes in that shows signs of MR. Parents note that he has violent behaviors and often slaps his face. His labs show Hyperuricemia.

Dx?

Cause?

Tx?

Lesch-Nyan syndrome

deficiency in purine salvage from absent HGPRT

also (hyperuricemia, Gout, Pissed off, Retardation and dysTonia)

tx: Allopurinol or Febuxostat

24

Golgi is key distribution for proteins and lipids from ER--> vesicles and plasma membrane

Modifies ____to serine and threonine and _____ to aspergine

Most importantly puts this on proteins that are destined for the lysosome

O-oligos to serine and threonine

N-oligoon aspartine

***Mannose-6-Phosphate for lysosomal trafficking

25

Where RNA polymerase and other TFs bind to DNA upstream from gene locus; AT RICH sequence with TATA box and CAAT boxes

mutation here results in decreased level in gene transcription

Promoter region

26

Congentital microdeletion of short arum of Chrom 5 (46XX or XY) what is this and what do we see associated

Cri-du-chat

microcephaly, ID, high pitched mewing (cat like) cry, epicanthal folds and VSD