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Biochemistry

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Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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1. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients
FAP
Infection - free radicals generated by inflammatory response
Scrutinizes - hydrolyzes the bond
Myeloperoxidase

2. What is the amino acid precursor for catecholamines
Phenylalanine
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Enhancers

3. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

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4. What is the TX for hyper ammonemia
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
LCAT (lecithin cholesterol acyltransferase)

5. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Facial flushing
Particular sequence of DNA where replicatino begins - may be single of multiple
Citrate - acetyl coa from mito to cyto
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin

6. What does the TCA cycle produce per 1 acetyl CoA
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Mutated dystrophin gene - less severe - adolescence
Deamination
Must be both activated and inactivated for cell cycle to progress

7. in a 100 meter sprint Where does energy come from
Stored ATP - creatine phosphate - anaerobic glycolysis
Catabolic processes to carry reducing equivalents away as NADH
Glucose -6 phosphate
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns

8. What is chediak higashi
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
Robertsonian translocation and mosaicism
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy

9. What converts limit dextran to glucose
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Debranching enzyme
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Zero

10. How do macrolides and clindamycin work
Cyclin dependent kinases;constitutive and inactive
Binds 50S - blocking translocation
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses

11. Of the four possible fates for pyruvate - which one is a transition from glycolysis to TCA cycle
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Schwann cells - lens - retina - kidneys
Acetyl - CoA

12. What is the RDE of de novo pyrimidine synthesis
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Prevent strands from reannealing
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Carbomoyl phosphate synthetase II

13. What are the reactants for glycolysis
Glucose - 2Pi - 2ADP - 2NAD+
Core proteins
Neural tube
Active secretion in lungs and GI - reabsorbs in skin

14. What does the start codon code for in eukaryotes and prokaryotes
SAM
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Eu - methionine - pro - formyl - methionine
Stop codon is recognized by release factor - and completed protein is released from ribosome

15. Which RNA poly opens DNA at promotor site
Glucose - 2Pi - 2ADP - 2NAD+
RNA poly II
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat
O- oligosaccharaides

16. How do stable (quiescent) cells grow and regenerate and What are examples
Keep glutathione reduced so it can detoxify free radicals and peroxides
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

17. What are the two transgenic strategies in mice
Particular sequence of DNA where replicatino begins - may be single of multiple
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact

18. How doe NADH electrons from glycolysis and the TCA cycle enter the mitochondiria
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor

19. What does the deletion of the dystrophin gene lead to...
Ca/calmodulin in muscle to coordinate with muscle activity
Accelearted muscle breakdown
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Tyrosine

20. What is the defect in I- hyperchylomicronemia
Targets the proteins for lysosome
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

21. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Inc insulin - dec cAMP - dec PKA
PCR - denaturation - annealing - elongation
RNA poly II
Changed AA (convservative - new AA is similar in chemical structure)

22. What is locus heterogeneity and give an example
FMR1 gene - methylation - associated with chromosomal breakage
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Silencers
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin

23. What substance in egg whites binds biotin
Neurofibromatosis type 1 (von Recklinghausens disease)
They yield only acetyl - CoA equivalents
Avidin
Free ribosomes

24. What happens do glycogen in skeletal muscle during exercise
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Glycogenolysis to form glucose
Purines= A - G pyrimidine = C - T (U)
Degradation of TG stored in adipocytes

25. Where is vit B12 found
Polyneuritis - symmetrical muscle wasting
Achondroplasia
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
GAA

26. What two enzymes are involved in EtOH metabolism
Schilling test
EtOH dehydrogenase and acetaldehyde dehydrogenase
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

27. What kind of RNA is transported out of the nucleus
30 - glycerol -3- phosphate shuttle
Silencers
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Only processed RNA

28. What happens in carnitine def
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Muscle
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

29. What are possilbe presentation for galactokinase def
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
One
Failure to track objects or develop a social smile
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

30. How is ammonium transported from muscle to the liver for urea cycle
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle
Glycogen synthase
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

31. What stretch of DNA that alters gene expression by binding of transcription factors
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Enhancers
AR

32. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Vincritsine/vinblastine

33. What causes patau's syndrome and What is it
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
NADH - NADPH - FADH2
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Glycogen phosphorylase

34. What is disulfiram used for
LCAT (lecithin cholesterol acyltransferase)
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Males are infertile due to bilateral absence of vas deferens
Phenylethamolamine N methyl transferase

35. What is the trinucleotide repeat in fragile X
Lacks glucose 6 phophatase
L form
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
CGG

36. Which antihelminthe drugs work on microtubules
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Mebendazole/thiabendazole
EtOH dehydrogenase and acetaldehyde dehydrogenase
BOne

37. What enzyme adds Cl - to the H202 to makes bleach
Thymic - parathyroid and cardiac
Myeloperoxidase
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

38. What is the results of vit B1 def
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Silencers
Core proteins

39. What does the vimentin stain for
Connective tissue
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Lariat shape in order and remove intron precisely and join 2 exons

40. What is the most abundant protein in the body
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Collagen
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
CarTWOlage

41. What trinucleotide repeat in Huntingtons and what chromosome is it found on...
Exons
Unwinds DNA template at replcation fork
CAG - 4
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

42. In a 1000 meter run - Where does energy come from
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Inc vit B6
Inc melt - dec fluidity
Same as sprint + OXPHOS

43. What does universal genetic code refer to and What are some exception
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Arg - lys - his - arg is most basic - has has no charge at body pH
Glycogen and FFA oxidation; glucose conserved for final sprinting

44. When are glycogen reserves depleted
Uses ATP to add high energy phophate group onto substrate
3' end (with CCA)
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
After day 1

45. What are the irreversible enzymes of gluconeogenesis
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase

46. What is the RDE of de novo purine synthesis
Sucrose = glucose + fructose - lactose = glucose + galactose
Glutamine PRPP amidotransferase
Foliage - small reserve in liver - eat green leaves
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

47. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
Oligomycin
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
Scrutinizes - hydrolyzes the bond
FISH

48. What sugar is sorbitol converted to and via what enzyme - and What can happen in cells lacking this enzyme
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
RNA
IDL

49. What do the single stranded binding proteins do
Protective against malaria
Prevent strands from reannealing
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

50. Is there any requirement for homology in NHEJ
No - its non homologous
Sulfation
Inc melt - dec fluidity
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B