High Yield Topics-Biochemistry Flashcards
1
Q
On NBME, do you ever refer or send patient to ethics committee?
A
NO! NEVER!
Use patient-centered questions, respect patient autonomy, never lie
2
Q
Inheritance pattern of mostly enzyme deficiencies; usually seen in only 1 generation
A
AR
3
Q
Inheritance pattern of mostly structural protein gene defect; usually seen in many generations with variable expressivity
A
AD
4
Q
How to distinguish x-linked dominant vs. recessive
A
x-linked dominant: females are more affected
x-linked recessive: males are more affected
- no male to male transition in both types!
5
Q
One gene contributes to multiple phenotypic effects; example is PKU ( light skin, intellectual disability, and musty body odor)
A
Pleiotropy
6
Q
Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease
- mtDNA passed from mother to all children.
A
Heteroplasmy
7
Q
inheritance that occurs when one characteristic is controlled by two or more genes
A
Polygenic inheritance
8
Q
When gene is “silenced”
A
imprinting
9
Q
A disorder caused by paternal uniparental disomy with paternal imprinting and maternal deletion; Inappropriate laughter, seizures, ataxia, severe intellectual disability
A
Angelman syndrome
- STUDY AID: angelMEN syndrome is paternal uniparental disomy
10
Q
A disorder caused by maternal uniparental disomy with maternal imprinting and paternal deletion; Hyperphagia and obesity, intellectual disability, hypogonadism, hypotonia
A
Prader-Willi syndrome
11
Q
immotile cilia (cilliary dyskinesia) due to a dynein arm defect; decreased male and female fertility due to immotile sperm and dysfunctional fallopian tube cilia; cause bronchiectasis, recurrent sinusitis, chronic ear infections, conductive hearing loss, and situs inversus (dextrocardia on xray)
A
Kartagener syndrome
- Kartagener’s restaurant: take-out only –> there’s no dynein “dine-in”
12
Q
Inheritance pattern of Kartagener syndrome
A
AR
13
Q
Normal function of CFTR gene
A
CFTR gene encodes ATP-gated Cl- channels –> secrete Cl- in lungs & GI tract and reabsorb Cl- in sweat glands
14
Q
Inheritance pattern of CF
A
AR
15
Q
Describe pathophysiology of CF
A
- Phe508 deletion in CFTR gene on chromosome 7
- Misfolded protein –> protein reatined in RER and cannot be transported to cell membrane
- Cl- cannot be secreted –> Increased intracellular Cl-
- Compensatory Na+ reabsorption via ENaC channel (and H2O follows)
- Abnormal thick mucus secreted in lungs and GI tract
- Na+ and Cl- cannot be reabsorbed in sweat glands –> excessive NaCl salt (and water) losses
16
Q
How is CF diagnosed?
A
Adults: Increased Cl− concentration in pilocarpine-induced sweat test
Newborn Screening: increased immunoreactive trypsinogen
- pilocarpine is cholinergic agonist (increase sweating)
17
Q
What electrolyte abnormality can be present in CF patients due to renal K+/H+ wasting in order to compensate ECF Na+/H2O losses (through sweating)?
HINT: effects are similar to taking a loop diuretic
A
contraction (metabolic) alkalosis & hypokalemia
- K+/H+ ATPase moves K+ and H+ in opposite directions –> H+ moves into the cell & K+ moves out of the cell –> Hypokalemia & metabolic alkalosis
18
Q
Pulmonary complications associated with CF
A
Recurrent pulmonary infections, chronic bronchitis, and bronchiectasis
19
Q
GI-related complications associated with CF
A
Pancreatic insufficiency, malabsorption with steatorrhea, fat-soluble vitamin deficiencies, and meconium ileus
20
Q
a bowel obstruction that occurs in CF babies when the meconium in your child’s intestine is even thicker and stickier than normal meconium
A
meconium ileus
21
Q
What other clinical signs/symptoms are associated with CF
A
infertility in men (subfertility in women), clubbing of nails, and nasal polyps
22
Q
Tx for pancreatic insufficiency due to CF
A
Pancreatic enzyme replacement therapy
23
Q
Tx for phe508 deletion in CF (2 types)
A
- lumacaftor (corrects misfolded proteins and improves their transport to cell surface)
- ivacaftor (increase opening of Cl– channels → improved chloride transport)
24
Q
Both b-oxidation (FA oxidation) and ketogenesis occur in what organelle?
A
mitochondria
25
Glycolysis occurs in what part of the cell?
cytoplasm/cytosol
26
Heme synthesis, urea cycle, and gluconeogenesis occur in what organelle?
both cytoplasm and mitochondria
27
Enzyme that muscle lacks and therefore cannot participate in gluconeogenesis
glucose-6-phosphatase
28
Even/Odd chain FA can undergo gluconeogenesis (enter the TCA cycle as 1 propionyl-CoA) and serve as a glucose source
Odd chain FA
29
glucose-6-phosphatase resides in what organelle to convert Glucose-6-phosphate to glucose?
ER
30
Pentose phosphate pathway is aka
HMP shunt
31
HMP shunt provides what two important products from glucose-6-phosphate
1. NADPH (required for many reductive rxns)
| 2. ribose-5-phosphate (nucleotide synthesis)
32
What enzyme converts glucose-6P to 6-phosphogluconate (and reduces NADP+ to NADPH)?
Glucose-6-phosphate dehydrogenase (G6PD)
* G6PD deficiency leads to anemia (heinz bodies & bite cells)
33
Tyrosine, DOPA, dopamine, NE, and epinephrine are what amino acid derivates?
Phenylalanine
34
Niacin (B3) and serotonin are what amino acid derivates?
Tryptophan
35
Histamine is what amino acid derivates?
Histidine
36
Porphyrin and heme are what amino acid derivates?
Glycine
37
GABA and glutathione are what amino acid derivates?
Glutamate
| glutamate is not same as glutamine; two different AAs
38
creatinine, urea, and nitric oxide are what amino acid derivates?
Arginine
* STUDY AID: creatinine sounds like creatine
- You need "creatinine" to build muscle (arghhh)
39
Nonpolar or hydrophobic amino acids
GLAM VIP PT
Glycine
Leucine
Alanine
Methionine
Valine
Isoleucine
Phenylalanine
Proline
Tryptophan
40
What are the steps, enzymes, and cofactors in catecholamine synthesis?
1. phenylalanine to tyrosine
- by phenylalanine hydroxylase
- BH4
2. tyrosine to DOPA
- by tyrosine hydroxylase
- BH4
3. DOPA to dopamine
- by DOPA decarboxylase
- B6
4. dopamine to NE
- by dopamine B-hydroxylase
- Vitamin C
5. NE to Epinepherine
- by PMNT
- S-Adenosyl methionine (SAM)
41
What enzyme converts tyrosine to melanin?
Tyrosinase
42
Enzyme affected in PKU
phenylalanine hydroxylase
43
Enzyme affected in albinism
Tyrosinase
44
Congenital deficiency of homogentisate oxidase in the degradative pathway of tyrosine to fumarate; causes pigment-forming homogentisic acid builds up in tissue; presents with dark urine (when exposed to air), ochronosis (bluish-black connective tissue like in ear cartilage and sclerae), and arthralgias (homogentisic acid builds up in joints)
alkaptonuria
45
A disorder due to decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin (BH4) cofactor; presents with intellectual disability, growth retardation, seizures, fair complexion, eczema, musty body odor
Phenylketonuria (PKU)
46
A disorder affecting infants due to lack of proper dietary therapy during pregnancy; presents with microcephaly, intellectual disability, growth retardation, congenital heart defects
Maternal PKU
*Mother has PKU which affects infant growth during pregnancy
47
PKU patients must avoid what artificial sweetener since it contains phenylalanine
aspartame
48
Enzyme affected in alkaptonuria
homogentisate oxidase
* converts Homogentisic Acid to Maleylacetoacetic Acid
49
Enzyme that destroys damaged or ubiquitin-tagged proteins; defective in "Parkinson disease"
Proteasome
*Defects in the ubiquitin-proteasome system have been implicated in some cases of Parkinson disease
50
An organelle that plays a key role in apoptosis; Cytochrome C leaks into the cell from this organelle and activates caspases, which break down cellular proteins
Mitochondria
51
Stabilize the inter mitochondria membrane, which prevents leakage of Cytochrome C into the cell
Bcl-2 and Bcl-xL
52
What cells lack Mitochondria?
RBCs (it needs to carry O2 and not used by mitochondria)
53
What autoimmune disorder is associated with anti-mitochondrial antibodies?
Primary Biliary Cholangitis (bile ducts in liver)
54
Most common type of collagen; makes bone, skin, tendon, cornea, LATE wound repair
Type I: bONE
55
Type of collagen that makes cartilage, hyaline, vitreous humor, and nucleus pulposus
Type II: carTWOlage
56
Type of collagen that makes blood vessels, uterus, early wound repair, and "reticulin" in connective tissue
Type III
* STUDY AID: parallel lines look like blood vessels
57
Collagen type deficient in Ehlers-Danlos syndrome
Type III or V
58
Type of collagen that makes lens and basement membrane (lamina)
Type IV: four for floor (BM)
59
Collagen type deficient in Alport syndrome
Type IV
60
Collagen type targeted by antibodies in Goodpasture syndrome
Type IV
* STUDY AID: "Good Pastor is ANTI-satan"
61
Collagen is synthesized by
fibroblasts
62
Describe steps of collagen synthesis
1. Preprocollagen Synthesis:
- collagen a-chains (Glycine-Proline-Lysine) are translated in RER
2. Hydroxylation:
- Proline and lysine are hydroxylated
- Vitamin C is required!
3. Glycosylation:
- Hydroxylysine residues are glycosylated
- Three glycosylated collagen a-chains are bonded via hydrogen and disulfide bonds
- Procollagen forms (triple helix of 3 a-chains)
4. Exocytosis:
- procollagen is exocytosed into extracellular space (outside of cell)
5. Proteolytic Processing:
- C and N terminals of procollagen are cleaved
- Tropocollagen forms
6. Cross-linking:
- lysyl oxidase covalently link many tropocollagens via lysine-hydroxylysine bonds
- Copper is required!
- Collagen fibers form
63
Vitamin C deficiency can impair what collagen synthesis step and cause what disease?
hydroxylation of proline and lysine; Scurvy
64
Problems forming triple helix can cause what disease?
Osteogenesis imperfecta
65
Problems with cross-linking is caused by what disease?
Menkes disease
66
↓ production of otherwise normal type 1 collagen due to problems forming triple helix; presents with multiple fractures after minimal trauma, blue sclerae, tooth abnormality, and hearing loss
Osteogenesis imperfecta
67
Inheritance pattern of Osteogenesis imperfecta
AD
* structural protein defect
68
Tx for Osteogenesis imperfecta
bisphosphonates to ↓ fracture risk
69
Gene defects of Osteogenesis imperfecta
COL1A1 and COL1A2
70
Connective tissue disease caused by impaired copper absorption and transport due to defective Menkes protein; presents with brittle, “kinky” hair, growth retardation, hypotonia, and ↑ risk of cerebral aneurysms
Menkes disease
71
What enzyme activity is low due to impaired copper absorption in Menkes disease?
lysyl oxidase
*copper is a necessary cofactor
72
Gene defects of Menkes disease
ATP7A
* ATP7B in Wilson disease (causes high level of copper instead of low as in Menkes disease)
* STUDY AID: a (means to lack)
73
Inheritance pattern of Menkes disease
X-Linked recessive
74
Faulty collagen synthesis causing hyperextensible skin, hypermobile joints, and tendency to bleed (easy bruising); AD inheritance
Ehlers-Danlos syndrome
* collagen type III or V mutation
75
Collagen type that causes hyperextensible skin and hypermobile joints in Ehlers-Danlos syndrome
type V
76
Collagen type that causes Vascular defects (bleeding, berry/aortic aneurysm, and uterus that are prone to rupture)
type III
77
Protein that is NOT hydroxylated and can stretch
Elastin
78
Amino acids that form elastin
Nonhydroxylated proline, glycine, and lysine residues
79
A glycoprotein that forms a sheath around elastin; acts as a scaffold
fibrillin
80
Cross-linking of many tropoelastins occur in
extracellular space
*same as collagen cross-linking
81
Enzyme that breaks down elastin
elastase
82
Elastase is normally inhibited by
a1-antitrypsin
83
a1-antitrypsin deficiency results in unopposed elastase activity and can cause what disease?
Emphysema (COPD)
84
Although dermal collagen and elastin synthesis decreases with age, what remains normal?
cross-linking
85
Defective fibrillin causes what disorder that presents with tall stature, long extremities and fingers/toes, pectus excavatum (sunken chest), hypermobile joints, aortic root dilation/aneurysm, and mitral valve prolapse?
Marfan syndrome
86
Gene mutation of Marfan syndrome
FBN1 gene --> defective fibrillin
*STUDY AID: "MARk zukerberg is the #1 CEO of FB" (FBn1)
87
How do you distinguish Marfan syndrome vs. Homocystinuria?
Marfan syndrome:
- upward displacement of lens
- aortic root dilation/aneurysm
- normal intellectual ability
Homocystinuria:
- downward displacement of lens
- No aortic involvement
- Intellectual disability
88
Describe insulin synthesis
*HINT: similar to collagen synthesis!
1. Preproinsulin is synthesized in RER of pancreatic B-cells
2. Presignal is cleaved to form proinsulin
3. Proinsulin is cleaved again and exocytosed with c-peptide in secretory granules
89
What level is elevated with insulin in insulinoma and sulfonylurea use?
C-peptide
*it means endogenous insulin production
90
What is missing if insulin is from exogenous source?
C-peptide
91
Niacin is aka
B3
92
Niacin is derived from what amino acid?
tryptophan
93
Constituent of NAD+ and NADP+ (used in redox reactions); lowers levels of VLDL and raises levels of HDL (used to treat dyslipidemia)
Niacin
94
Deficiency leads to glossitis (swollen, inflamed tongue), facial flushing, and pellagra (diarrhea, dementia, dermatitis, and death)
Niacin
95
“broad collar” rash (Casal necklace) and hyperpigmentation of sun exposed are skin findings of
dermatitis of niacin deficiency
96
Deficiency of neutral amino acid (tryptophan) transporters in proximal renal tubular cells and on enterocytes -----> neutral aminoaciduria and decreased absorption from the gut -----> decreased tryptophan for conversion to niacin leading to pellagra
Hartnup Disease
97
Niacin is found in what type of food
meat/protein
98
Vitamin B12 is aka
Cobalamin
99
Cofactor for DNA synthesis, myeline synthesis, and methionine synthase (converts homocysteine to methionine)
Vitamin B12
100
Deficiency leads to macrocytic, megaloblastic anemia, hypersegmented PMNs, and nerve damage (myelin degeneration)
Vitamin B12
101
Lab findings for macrocytic, megaloblastic anemia caused by vitamin B12 deficiency
Increased MMA
| Increased homocysteine
102
Macrocytic, megaloblastic anemia caused by folic acid does not have elevated
MMA
103
Vitamin B12 is found only in what type of food?
Animal products
104
An autoimmune gastritis that destroys Parietal Cells and leads to HCl acid and Intrinsic Factor deficiency --> B12 deficiency
Pernicious anemia
105
B12 deficiency can also be caused by what surgery?
gastric bypass surgery; Crohn disease surgery (surgical resection of ileum)
106
What unique symptom in B12 deficiency can help distinguish from folate deficiency?
neurologic symptom
*not present in folate deficiency
107
A long-term veganism can lead to what type of anemia?
macrocytic, megaloblastic anemia (B12 deficiency)
* takes a very long time though!
108
Deficiency presents as hemolytic anemia, acantholysis (loss of cohesion between keratinocytes), and demyelinations of the dorsal columns and spinocerebellar tract
Vitamin E
109
Vitamin E is aka
tocopherol
110
Excess can increase risk of enterocolitis in infant. May also decrease metabolism of vitamin K, thereby enhancing warfarin effects
Vitamin E
111
ALT vs. AST in liver disease
ALT > AST
112
ALT vs. AST in alcoholic liver disease
AST > ALT
* AST will not exceed 500 U/L in alcoholic hepatitis
* AST/ALT > 2
113
AST > ALT in nonalcoholic liver disease suggests
cirrhosis (a late stage of scarring (fibrosis) of the liver)
114
AST, ALT > 1000 U/L suggests
1. drug-induced liver injury (acetaminophen toxicity)
2. ischemic hepatitis
3. acute viral hepatitis
4. autoimmune hepatitis
115
Antibodies associated with pernicious anemia
1. anti-parietal cells
| 2. anti-IF
116
What trisomy causes rocker-bottom feet, cleft liP/Palate, Polydactyly, cutis aplasia (absence of skin on scalp), Polycystic kidney disease, and omphalocele (covered)?
Patau syndrome
* trisomy 13 = "P"uberty age
* Caused by oligohydramnios
117
What trisomy is due to defect in fusion of prechordal mesoderm → midline defects
Patau syndrome
118
What trisomy causes clenched fists with overlapping fingers, rocker-bottom feet, prominent occiput, low-set ears, and micrognathia (small jaw)?
Edwards syndrome
* trisomy 18 = "E"lection age
119
What trisomy causes flat facies, single palmar crease, duodenal atresia, ASD, and Brushfield spots (speckled iris)?
Down
*trisomy 21 = "D"rinking age
120
Patients with down syndrome are at an increased risk of developing
1. Alzheimer disease
(chromosome 21 codes for amyloid precursor protein)
2. AML/ALL
121
Two types of genetic mutation causing down syndrome
1. 95% of cases due to "meiotic nondisjunction"
| 2. 4% of cases due to "unbalanced Robertsonian translocation" (b/w chromosomes 14 and 21)
122
Risk of meiotic nondisjunction mutation that cause down syndrome increases with
advanced maternal age
123
Markers for down syndrome during pregnancy
Decreased AFP
Increased hCG
Increased inhibin
* + nuchal translucency
124
Mnemonic for Fabry Dx
My fabryite activity is making ceramic galaxy. Sorry for keep HARPing on it.
125
Describe Fabry Dx
- Ceramide accumulation
- Galactosidase deficiency
- H: Hypohidrosis
- A: Angiokeratomas
- R: Renal failure
- P: Peripheral neuropathy
126
Mnemonic for Gaucher Dx
(crying voice) OMGauch! He's such a bro.
127
Describe Gaucher Dx
- Glucocerebroside accumulation
- Glucocerebrosidase deficiency
- O: Osteoporosis
- M: Most common LSD
- G: Gross femoral avascular necrosis
- Lipid-laden tissue paper cytoplasm
128
Mnemonic for Tay-Sachs Dx
A gang of six small Jews
129
Describe Tay-Sachs Dx
- Ganglioside accumulation
- Hexoaminidase A deficiency
- No hepatosplenomegaly
- Cherry-red spots on macula
130
Mnemonic for Niemann-Pick Dx
Pick your nose with a big, foamy sphinger
131
Describe Niemann-Pick Dx
- Sphingomyelin accumulation
- Sphingomyelinase deficiency
- Yes hepatosplenomegaly
- Cherry-red spots on macula
- Foam cells (lipid-laden macrophages)
132
Mnemonic for Krabbe Dx
A glob of GOOey krabbe meat is out of this world
133
Describe Krabbe Dx
- Galactocerebroside accumulation
- Galactocerebrosidase deficiency
- G: Globoid cells
- O: Oligodendrocyte destruction
- O: Optic atrophy
134
Mnemonic for Metachromatic Leukodystropy
Metapod is an aryl broken pokemon
135
Describe Metachromatic Leukodystropy
- Cerebroside sulfate accumulation
- Arylsulfatase deficiency
- Dementia
- Ataxia
- Central/peripheral demyelination
136
Mnemonic for Hunter syndrome
Hunters have clear I's 2 see
137
Describe Hunter syndrome
- Dermatan/heparan sulfate accumulation
- Iduronate-2-sulfatase deficiency
- Gargoylism (coarse facial features)
- No corneal clouding
- Behavioral aggression
138
Describe Hurler syndrome
- Dermatan/heparan sulfate accumulation
- Alpha-2-iduronitase deficiency
- Gargoylism (coarse facial features)
- Corneal clouding
139
What lysosomal storage diseases are x-linked recessive
Hunter
Fabry
"Hunt FoX"
140
What lysosomal storage diseases are autosomal recessive
Everything else besides Hunter & Fabry
141
Enzymes of Glycolysis
1. Insulin activates _____
2. Glucagon activates _____
1. Phosphofructokinase-2
| 2. Fructose-2,6-bisphosphatase
142
Rate-limiting enzyme in glycogen synthesis
glycogen synthase
143
Rate-limiting enzyme in glycogenolysis
Glycogen phosphorylase
144
Mnemonic for Von Gierke Disease
Von "Geek" Disease
- Fat, fatty liver, and no muscle
145
Describe Von Gierke Disease
- Lack of G-6-phosphatase
- Hepatomegaly
- Hypoglycemia (no gluconeogenesis)
- Hyperlipidemia (increased fat breakdown)
- Hyperuricemia (increased protein breakdown)
* Since glucose cannot be made, fat & protein catabolism increases
146
Mnemonic for Cori Disease
"Coral" disease
- Think of coral reef
147
Describe Cori Disease
- Lack of debranching enzyme (alpha-1,6-glucosidase)
- Abnormal glycogen structure (like branched coral reef)
- Same symptoms as Von Gierke Disease
148
Mnemonic for McArdle's Disease
McArdle's-"Muscle"
149
Describe McArdle's Disease
- Lack of glycogen phosphorylase in "muscle"
- Muscle cramps on exertion
- Hypoglycemia on exertion
- Myoglobinuria (glycogen deposit damages and increases muscle breakdown)
* glycogen phosphorylase cleaves 1,4-a-glycosidic bonds
150
Mnemonic for Her's Disease
Her's-"Hepatic"
151
Describe Her's Disease
- Lack of glycogen phosphorylase in "hepatocytes"
- Hepatomegaly
- Fasting blood hypoglycemia
152
Mnemonic for Anderson Disease
"Anderson Cooper gets straight to the point"
153
Describe Anderson Disease
- Lack of branching enzyme
| - Cirrhosis (long glycogen constantly inflamed the liver --> scarring)
154
Mnemonic for Pompe Disease
"Pompe affects the pumping organ (heart)"
155
Describe Pompe Disease
- Lack of debranching enzymes specifically in "lysosomes"
| - Cardiomegaly (heart has lots of lysosomes)
156
Periodic acid-Schiff stain identifies what molecule and is useful identifying diseases related to this molecule?
Glycogen
157
Symptoms/signs that develop with tyrosine hydroxylase deficiency
Decreased dopamine --> progressive "dystonia"
Decreased dopamine --> decreased "Homovanillic Acid" (dopamine degradation products)
158
Cotransporter that absorbs galactose and glucose through the intestinal enterocytes.
sodium-glucose cotransporter-1 (SGLT-1)
* SGLT2 is responsible for Na+ and glucose reuptake in the KIDNEY (PCT)
159
Rising from supine to standing results in what changes (dec. or inc.) in venous return, carotid sinus baroreceptor activity, and cerebral blood flow?
- decreased venous return
- decreased carotid sinus baroreceptor activity (due to decreased atrial stretching)
- decreased cerebral blood flow
160
a genetic phenomenon in which disease traits are more severe and/or appear at earlier ages in later generations
Anticipation
161
Anticipation is commonly seen in what type of genetic phenomena?
trinucleotide repeat expansions
162
Trinucleotide repeat expansions is a genetic mutation caused by a defect in
DNA mismatch repair
163
Progressive skeletal muscle wasting, weakness (impaired ability to relax), and cardiomyopathy with dysrhythmia (arrhythmia)
Myotonic dystrophy
164
What trinucleotide repeat expansion of ____ gene causes myotonic dystrophy
CTG; DMPK (dystrophia myotonica protein kinase)
165
What lysosomal storage diseases show increased urinary levels of dermatan and heparan sulfates (mucopolysaccharides)?
Hunter & Hurler Syndromes
166
Mucopolysaccharides are currently known as
glycosaminoglycans (GAGs)
167
An autosomal recessive disease similarly presents as Hurler syndrome (coarse facial feature, corneal clouding) that is caused by defective N-acetylglucosaminyl-1-phosphotransferase
I-cell disease
168
Defective N-acetylglucosaminyl-1-phosphotransferase in I-cell disease causes impaired addition of _____ to lysosomal enzymes
mannose phosphate
169
The same phenotype can be produced by numerous different gene mutations
ex. Albinism
Genetic heterogeneity
* two affected individuals can exhibit the same symptoms of albinism but have entirely disparate genetic mutations.
170
Changes in the following enzyme activity or molecule concentrations during fasting (dec or inc)
1. fructose 2,6-bisphosphate
2. glucose 6-phosphatase
3. phosphoenolpyruvate carboxykinase
4. pyruvate kinase
1. dec
2. inc
3. inc
4. dec
171
Describe adenylate cyclase signaling pathway
1. Ligand binds to GPCR
2. GPCR goes through conformational change and activates alpha subunit
3. Alpha subunit releases GDP and binds to GTP
4. GTP bound alpha subunit activates adenylate cyclase
5. adenylate cyclase converts ATP into cAMP
6. cAMP binds to inhibitory protein on Protein Kinase "A"
7. Activated PKA activates protein kinase
8. Activated protein kinase activates other enzymes (ex. glycogen phosphorylase)
172
Type of G protein that involves adenylate cyclase
```
G stimulatory (Gs)
G inhibitory (Gi)
```
173
Describe phospholipase C signaling pathway
1. Ligand binds to GPCR
2. GPCR goes through conformational change and activates alpha subunit
3. Alpha subunit releases GDP and binds to GTP
4. GTP bound alpha subunit activates phospholipase C
5. phospholipase C cleaves PIP2 molecule --> IP3 & DAG
6. IP3 binds to IP3/Ca+2 channel on ER
7. Ca+2 gets released into cytosol
8. Cytosolic Ca+2 and DAG together activates protein kinase "C"
9. Activated PKC phosphorylates target protein
174
Type of GCPR that involves phospholipase C
Gq
175
Pyruvate --> acetyl coa is mediated by what enzyme?
Pyruvate dehydrogenase (complex)
176
What serum level increases in pyruvate dehydrogenase deficiency?
Lactic acid (b/c pyruvate can only be converted to lactate by LDH)
177
What type of amino acids can provide energy in the form of acetyl-CoA without increasing lactate production?
Ketogenic amino acids
- Lysine
- Leucine
178
What type of amino acids can produce pyruvate or TCA cycle intermediates, which can be converted to glucose via gluconeogenesis?
Glucogenic amino acids
| - all AAs except Lysine and Leucine!
179
In response to increased exercise, what locally produced metabolites (5) from skeletal muscles are produced? What's their function?
- Lactate, H+, K+, CO2, and Adenosine
| - Vasodilation
180
Accumulation of NADH is observed in the setting of tissue
Hypoxia
* Without oxidative phosphorylation, the body increases glycolysis to generate ATP ANaerobically, which produces excess NADH and lactic acid
181
C-ANCA is antibody against
cytoplasmic components of "neutrophils"
182
P-ANCA is antibody against
Peri-nuclear components of "neutrophils"
183
C-ANCA is aka.
Proteinase 3 (PR3) antibody
184
P-ANCA is aka.
Myeloperoxidase (MPO) antibody
