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Biochem Flashcards

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1
Q

Glycogen storage diseases Very Poor Carbohydrate Metabolism

A

VON GIERKE glucose 6 phosphatase POMPES alpha 1 4 glucosidase CORI alpha 1 6 glucosidase MCARDLE glycogen phosphorylase

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2
Q

Glucose transporters not requiring insulin

A

GLUT 13 brain kidney placenta GLUT 2 liver pancreatic B cell SI Kidney

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3
Q

GLUT requiring insulin

A

GLUT 4 Heart Skeletal muscle Adipocytes

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4
Q

GLUT 1

A

RBC COLON Brain KidneyPlacenta

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5
Q

GLUT 3

A

Brain Kidney Placenta

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6
Q

GLUT 5

A

Small intestines

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7
Q

Location of glycolysis

A

cytoplasm

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8
Q

3 carbon end products of glycolysis

A

Pyruvate or Lactate

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9
Q

rate limiting step of glycolysis

A

PFK 1 from fructose 6 phosphate TO fructose 1 6 bisphosphate

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10
Q

3 irreversible steps of glycolysis

A

1 phosphorylation of glycose via GLUCOKINASE or HEXOKINASE. 2 phosphorylation of fructose 6 phosphate via PFK1. 3 formation of pyruvate via PYRUVATE DEHYDROGENASE.

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11
Q

No of ATP from substrate level phosphorylation in Glycolysis

A

4 ATP

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12
Q

No of ATP needed for glycolysis

A

2 ATP

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13
Q

ATP production in glycolysis using KINases ie phosphate transfer into ADP

A

1 3 biphosphoglycerate and PEP

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14
Q

NADH prodc in glycolysis

A

glycealdehyde 3 phosphate to 1 3 bisphosphoglycerate via a DEHYDROGENASE

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15
Q

Malate aspartate shittle liver kidney heart vs glycerol phosphate shuttle in brain and sk ms

A

Malate 1 NADH to 3 ATP via NADH e acceptor complex I while Glycerol 1 NADH to 2 ATP via FADH e acceptor in complex II

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16
Q

organs that are Strictly anaerobic glycolysis

A

RBC lens cornea medulla of kidney testes WBC

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17
Q

NET ATP yield from Glycolysis

A

Anaerobic 2 ATP. Aerobic ATPs ff NADG 4 or 6 with net ATP of 6 or 8 depending on shuttle used.

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18
Q

Function of 2 3 Bisphosphoglycerate

A

reduces Hgb affinity for O2 hence releasing it. Note fetal hgb has higher 2 3 biphosphoglycerate than mom

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19
Q

Arsenic poison competes with

A

1competes with phosphate as substrate for GLYCERALDEHYDE 3 P DEHYDROGENASE 2 binds lipoic acid so PYRUVATE DEHYDROGENASE wont work therefore no NADH is produced during glycolysis to go into ETC

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20
Q

MC enzyme defect in glycolysis

A

Pyruvate kinase deficiency presents as chronic hemolytic anemia

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21
Q

2 enzymed requiring 5 co enzymes

A

1 pyruvate dehydrogenase 2 Alpha ketogluterate Dehydrogenase of TCA

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22
Q

5 co enzymes of the divas Love Never Fails To Conquer

A

Lipoic acid Niacin riboFADin Thiamine Co enzyme A with B5

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23
Q

MCC congenital lactic acidosis

A

Pyruvate dehydrogenase deficiency X linked

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24
Q

Site of TCA

A

mitochondrial matrix EXCEPT succinate dehydrogenase aka Complex II in inner mitochondria

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25
substrate of TCA
ACETYL COA fr pyruvate
26
UP above acid vs base
above pka. Acid is unprotonated with negative charge. Base is unprotonated with charge. Charged is water soluble. Uncharged is lipid soluble.
27
rate limiting step of TCA
isocitrate to alpha ketogluterate via isocitrate dehydrogenase
28
Steps in TCA Cindy is Kind So She Forgives More Often
Citrate Isocitrate Ketogluterate Succinyl Coa Succinate Fumarate Malate Oxaacetate
29
dehydrogenase always produces an
NADH
30
Citrate
fatty acid synthesis
31
succinyl coa
heme synthesis
32
malate
may be used for gluconeogenesis
33
TCA where NADH is produced
1 isocitrate dehydrogenase 2 alpha ketogluterate dehydrogenase 3 malate dehydrogenase
34
TCA where FADH is produced
succinate dehydrogenase
35
TCA where GTP is produced
succinate thioKINase
36
ATP yield fr TCA starting fr Acetyl Coa or Pyruvate
must multiply by 2 coz 2 acetyl coa entered TCA per glucose. acetyl coa 12 or pyruvate 15. nu shuttle needed coz inside mitochondria.
37
goal of gluconeogenesis
prevent hypoglycemia
38
site of gluconeogenesis
90 percent in LIVER. 10 percent in KIDNEY. Esrd prone to hypogly coz in fasting kidney does 40 percent of work.
39
Gluconeogenesis subtrate
pyruvate
40
rate limiting step in gluconeogenesis
fructose 1 6 bisphosphate to fructose 6 phosphate via Fructose 1 6 bisphosphatase
41
Cori cycle of Gluconeogenesis
lactate fr sk ms and rbc converted to GLUCOSE in liver and then given back
42
hexokinase or glucokinase in glycolysis is _____________________ in gluconeogenesis
glucose 6 phosphatase in ER
43
PFK 1 in glycolysis is ______________ in gluconeogenesis
fructose 1 6 bisphosphatase in CYTOSOL
44
pyruvate kinase in glycolysis is _______________ in gluconeogenesis
Pyruvate carboxylase in Mitochondria. Requires biotin and ATP. Activated by Acetyl coA.
45
co factor of carBoxylase
Biotin
46
home of glucose 6 phophate enzyme
liver and kidney. Recall gluconeogenesis ito. Wala sa muscle kaya me cori cycle.
47
ATP requirement for gluconeogenesis
4 atp from burning of fat ie beta oxydation.
48
gluconeogenesis produces NADH. ETOH metab also produces NADH shunting reaction away from gluconeogenesis and towards
1 pyruvate to lactate 2 OAA to malate 3 DHAP to glycerol 3 phosphate aka FA synthesis
49
storage of glycogen in
LIVER for export and MUSCLE for internal use
50
glycogen bond for elongation
alpha 1 to 4 glycosidic bond
51
glycogen bond for branching
alpha 1 to 6 glycosidic bond
52
shared enzyme gluconeogenesis and glycogenolysis
glucose 6 phosphatase in ER
53
enzymes are DEPHOSPHORALATED in ______________ state
well fed
54
enzymes are PHOSPHORALATED in ______________ state
fasting
55
Gluconeogenesis. Enzyme used in Pyruvate TO Oxaloacetate and where
Pyruvate carboxylase in Mitochondria. Requires biotin and ATP. Activated by Acetyl coA.
56
Gluconeogenesis. Enzyme used in Oxaloacetate TO Phosphoenolyruvateand and where
PEP Carboxikinase in Cytosol. Requires GTP.
57
Inhibits by glucose 6 phosphate
Hexokinase
58
Disulfiram reaction secondary to accumulation of __________ via reaction that is zero order kinetics
Acetaldehyde Alcohol dehydrogenase Acetaldehyde dehydrogenase ETOH-------------------> acetaldehyde -------------> acetate NAD to NADH NAD to NADH
59
Functions of PTH 4
- Inc bone resorption of calcium and phosphate - Inc kidney reabsorption of calcium in distal convoluted tubule - Dec reabsorption of phosphate in proximal convoluted tubule - Inc 1 25 OH2 D3 calcitriol production by stimulating kidney 1 alpha hydroxylase
60
Derivatives of phenylalanine
Thyroxine Melanin ^ ^ Vit C SAM Phenylalanine -> tyrosine -> dopa ->dopamine-> NE ->Epi
61
Tryptophan derivatives
+ b6: Niacin -> NAD/NADP Tryptophan Serotonin -> melatonin
62
Derivative of Histidine
Histamine
63
Derivatives of Glycine
Glycine + b6 = porphyrin -> heme
64
Derivatives of Arginine
Creatinine Urea Nitric oxide
65
Derivatives of glutamate
1GABA from Glutamate + B6 | 2 glutathione
66
Characteristics of gluckokinase
1 not inhibited by glucose 6 phosphate unlike hexokinase 2 higher michaelis menten constant aka low affinity for glucose but with higher maximum reaction rate hence larger capacity than hexokinase once activated
67
Essential amino acids PVT TIM haLL always argues never tyres A for arginine, T is not for tyrosine
Phenylalanine Valine Tryptophan Threonine Isoleucine Methionine histidine - becomes essential in times of Stress arginine Leucine Lysine
68
Inhibits by glucose 6 phosphate
Hexokinase
69
Disulfiram reaction secondary to accumulation of __________ via reaction that is zero order kinetics
Acetaldehyde Alcohol dehydrogenase Acetaldehyde dehydrogenase ETOH-------------------> acetaldehyde -------------> acetate NAD to NADH NAD to NADH
70
Functions of PTH 4
- Inc bone resorption of calcium and phosphate - Inc kidney reabsorption of calcium in distal convoluted tubule - Dec reabsorption of phosphate in proximal convoluted tubule - Inc 1 25 OH2 D3 calcitriol production by stimulating kidney 1 alpha hydroxylase
71
Derivatives of phenylalanine
Thyroxine Melanin ^ ^ Vit C SAM Phenylalanine -> tyrosine -> dopa ->dopamine-> NE ->Epi
72
Tryptophan derivatives
+ b6: Niacin -> NAD/NADP Tryptophan Serotonin -> melatonin
73
Derivative of Histidine
Histamine
74
Derivatives of Glycine
Glycine + b6 = porphyrin -> heme
75
Derivatives of Arginine
Creatinine Urea Nitric oxide
76
Derivatives of glutamate
1GABA from Glutamate + B6 | 2 glutathione
77
Characteristics of gluckokinase
1 not inhibited by glucose 6 phosphate unlike hexokinase 2 higher michaelis menten constant aka low affinity for glucose but with higher maximum reaction rate hence larger capacity than hexokinase once activated
78
Essential amino acids PVT TIM haLL always argues never tyres A for arginine, T is not for tyrosine
Phenylalanine Valine Tryptophan Threonine Isoleucine Methionine histidine - becomes essential in times of Stress arginine Leucine Lysine
79
Inhibits by glucose 6 phosphate
Hexokinase
80
Disulfiram reaction secondary to accumulation of __________ via reaction that is zero order kinetics
Acetaldehyde Alcohol dehydrogenase Acetaldehyde dehydrogenase ETOH-------------------> acetaldehyde -------------> acetate NAD to NADH NAD to NADH
81
Functions of PTH 4
- Inc bone resorption of calcium and phosphate - Inc kidney reabsorption of calcium in distal convoluted tubule - Dec reabsorption of phosphate in proximal convoluted tubule - Inc 1 25 OH2 D3 calcitriol production by stimulating kidney 1 alpha hydroxylase
82
Derivatives of phenylalanine
Thyroxine Melanin ^ ^ Vit C SAM Phenylalanine -> tyrosine -> dopa ->dopamine-> NE ->Epi
83
Tryptophan derivatives
+ b6: Niacin -> NAD/NADP Tryptophan Serotonin -> melatonin
84
Derivative of Histidine
Histamine
85
Derivatives of Glycine
Glycine + b6 = porphyrin -> heme
86
Derivatives of Arginine
Creatinine Urea Nitric oxide
87
Derivatives of glutamate
1GABA from Glutamate + B6 | 2 glutathione
88
Characteristics of gluckokinase
1 not inhibited by glucose 6 phosphate unlike hexokinase 2 higher michaelis menten constant aka low affinity for glucose but with higher maximum reaction rate hence larger capacity than hexokinase once activated
89
Essential amino acids PVT TIM haLL always argues never tyres A for arginine, T is not for tyrosine
Phenylalanine Valine Tryptophan Threonine Isoleucine Methionine histidine - becomes essential in times of Stress arginine Leucine Lysine
90
Inhibits by glucose 6 phosphate
Hexokinase
91
Disulfiram reaction secondary to accumulation of __________ via reaction that is zero order kinetics
Acetaldehyde Alcohol dehydrogenase Acetaldehyde dehydrogenase ETOH-------------------> acetaldehyde -------------> acetate NAD to NADH NAD to NADH
92
Functions of PTH 4
- Inc bone resorption of calcium and phosphate - Inc kidney reabsorption of calcium in distal convoluted tubule - Dec reabsorption of phosphate in proximal convoluted tubule - Inc 1 25 OH2 D3 calcitriol production by stimulating kidney 1 alpha hydroxylase
93
Derivatives of phenylalanine
Thyroxine Melanin ^ ^ Vit C SAM Phenylalanine -> tyrosine -> dopa ->dopamine-> NE ->Epi
94
Tryptophan derivatives
+ b6: Niacin -> NAD/NADP Tryptophan Serotonin -> melatonin
95
Derivative of Histidine
Histamine
96
Derivatives of Glycine
Glycine + b6 = porphyrin -> heme
97
Derivatives of Arginine
Creatinine Urea Nitric oxide
98
Derivatives of glutamate
1GABA from Glutamate + B6 | 2 glutathione
99
Characteristics of gluckokinase
1 not inhibited by glucose 6 phosphate unlike hexokinase 2 higher michaelis menten constant aka low affinity for glucose but with higher maximum reaction rate hence larger capacity than hexokinase once activated
100
Essential amino acids PVT TIM haLL always argues never tyres A for arginine, T is not for tyrosine
Phenylalanine Valine Tryptophan Threonine Isoleucine Methionine histidine - becomes essential in times of Stress arginine Leucine Lysine
101
Inhibits by glucose 6 phosphate
Hexokinase
102
Disulfiram reaction secondary to accumulation of __________ via reaction that is zero order kinetics
Acetaldehyde Alcohol dehydrogenase Acetaldehyde dehydrogenase ETOH-------------------> acetaldehyde -------------> acetate NAD to NADH NAD to NADH
103
Functions of PTH 4
- Inc bone resorption of calcium and phosphate - Inc kidney reabsorption of calcium in distal convoluted tubule - Dec reabsorption of phosphate in proximal convoluted tubule - Inc 1 25 OH2 D3 calcitriol production by stimulating kidney 1 alpha hydroxylase
104
Derivatives of phenylalanine
Thyroxine Melanin ^ ^ Vit C SAM Phenylalanine -> tyrosine -> dopa ->dopamine-> NE ->Epi
105
Tryptophan derivatives
+ b6: Niacin -> NAD/NADP Tryptophan Serotonin -> melatonin
106
Derivative of Histidine
Histamine
107
Derivatives of Glycine
Glycine + b6 = porphyrin -> heme
108
Derivatives of Arginine
Creatinine Urea Nitric oxide
109
Derivatives of glutamate
1GABA from Glutamate + B6 | 2 glutathione
110
Characteristics of gluckokinase
1 not inhibited by glucose 6 phosphate unlike hexokinase 2 higher michaelis menten constant aka low affinity for glucose but with higher maximum reaction rate hence larger capacity than hexokinase once activated
111
Essential amino acids PVT TIM haLL always argues never tyres A for arginine, T is not for tyrosine
Phenylalanine Valine Tryptophan Threonine Isoleucine Methionine histidine - becomes essential in times of Stress arginine Leucine Lysine
112
Inhibits by glucose 6 phosphate
Hexokinase
113
Disulfiram reaction secondary to accumulation of __________ via reaction that is zero order kinetics
Acetaldehyde Alcohol dehydrogenase Acetaldehyde dehydrogenase ETOH-------------------> acetaldehyde -------------> acetate NAD to NADH NAD to NADH
114
Functions of PTH 4
- Inc bone resorption of calcium and phosphate - Inc kidney reabsorption of calcium in distal convoluted tubule - Dec reabsorption of phosphate in proximal convoluted tubule - Inc 1 25 OH2 D3 calcitriol production by stimulating kidney 1 alpha hydroxylase
115
Derivatives of phenylalanine
Thyroxine Melanin ^ ^ Vit C SAM Phenylalanine -> tyrosine -> dopa ->dopamine-> NE ->Epi
116
Tryptophan derivatives
+ b6: Niacin -> NAD/NADP Tryptophan Serotonin -> melatonin
117
Derivative of Histidine
Histamine
118
Derivatives of Glycine
Glycine + b6 = porphyrin -> heme
119
Derivatives of Arginine
Creatinine Urea Nitric oxide
120
Derivatives of glutamate
1GABA from Glutamate + B6 | 2 glutathione
121
Characteristics of gluckokinase
1 not inhibited by glucose 6 phosphate unlike hexokinase 2 higher michaelis menten constant aka low affinity for glucose but with higher maximum reaction rate hence larger capacity than hexokinase once activated
122
Essential amino acids PVT TIM haLL always argues never tyres A for arginine, T is not for tyrosine
Phenylalanine Valine Tryptophan Threonine Isoleucine Methionine histidine - becomes essential in times of Stress arginine Leucine Lysine
123
Inhibits by glucose 6 phosphate
Hexokinase
124
Disulfiram reaction secondary to accumulation of __________ via reaction that is zero order kinetics
Acetaldehyde Alcohol dehydrogenase Acetaldehyde dehydrogenase ETOH-------------------> acetaldehyde -------------> acetate NAD to NADH NAD to NADH
125
Functions of PTH 4
- Inc bone resorption of calcium and phosphate - Inc kidney reabsorption of calcium in distal convoluted tubule - Dec reabsorption of phosphate in proximal convoluted tubule - Inc 1 25 OH2 D3 calcitriol production by stimulating kidney 1 alpha hydroxylase
126
Derivatives of phenylalanine
Thyroxine Melanin BH4 ^ BH4 ^ B6 Vit C SAM Phenylalanine -> tyrosine -> dopa ->dopamine-> NE ->Epi
127
Tryptophan derivatives
+ b6: Niacin -> NAD/NADP Tryptophan + bh4: Serotonin -> melatonin
128
Derivative of Histidine
Histidine + b6 = Histamine
129
Derivatives of Glycine
Glycine + b6 = porphyrin -> heme
130
Derivatives of Arginine
Creatinine Urea Nitric oxide
131
Derivatives of glutamate
1 Glutamate + B6 = GABA | 2 glutathione
132
Characteristics of gluckokinase
1 not inhibited by glucose 6 phosphate unlike hexokinase 2 higher michaelis menten constant aka low affinity for glucose but with higher maximum reaction rate hence larger capacity than hexokinase once activated
133
Essential amino acids PVT TIM haLL always argues never tyres A for arginine, T is not for tyrosine
Phenylalanine Valine Tryptophan Threonine Isoleucine Methionine histidine - becomes essential in times of Stress arginine Leucine Lysine
134
Essential fatty acids
Lolinoleic acid | Linolenic acid
135
Agent that prevents oxygen from serving as the final electron acceptor in ETC
Cyanide Binds cytochrome c aka complex IV therefore stops any further oxidative phosphorylation
136
ETC Binds the stalk of ATP synthase and blocks re entry of protons into the mitochondrial matrix Or Directly inhibits the mitochondrial ATP synthase causing an increase proton gradient, stoping ATP synthesis.
Oligomycin Stops further electron transport since no gradient, activity results in heat production instead of ATP. Inhibits complex V
137
Directly inhibits electron transport in ETC
Complex 1 : Rotenone Complex 3 : actimycin A Complex 4 : cyanide, CO
138
Complex II of TCA in inner mitochondria is
Succinate dehydrogenase of Krebb's cycle
139
Universal electron transporters
Nicotinamide from niacin 1 NAD+ : catabolic processes 2 NADPH : anabolic process - steroid and FA synthesis - anabolic processes/respi burst/P 459/glutathione reductase Flavin nucleotides fr B2
140
Diphosphatidylglycerol eponym It is found in the inner mitochondrial membrane and bacterial membrane.
Cardiolipin - only human glycerol phospholipid that is antigenic. - it is recognized by antibodies raised against treponema pallium - false positive RPR
141
Essential fatty acids
Lolinoleic acid | Linolenic acid
142
Agent that prevents oxygen from serving as the final electron acceptor in ETC
Cyanide Binds cytochrome c aka complex IV therefore stops any further oxidative phosphorylation
143
ETC Binds the stalk of ATP synthase and blocks re entry of protons into the mitochondrial matrix Or Directly inhibits the mitochondrial ATP synthase causing an increase proton gradient, stoping ATP synthesis.
Oligomycin Stops further electron transport since no gradient, activity results in heat production instead of ATP. Inhibits complex V
144
Directly inhibits electron transport in ETC
Complex 1 : Rotenone Complex 3 : actimycin A Complex 4 : cyanide, CO
145
Complex II of TCA in inner mitochondria is
Succinate dehydrogenase of Krebb's cycle
146
Universal electron transporters
Nicotinamide from niacin 1 NAD+ : catabolic processes 2 NADPH : anabolic process - steroid and FA synthesis - anabolic processes/respi burst/P 459/glutathione reductase Flavin nucleotides fr B2
147
Diphosphatidylglycerol eponym It is found in the inner mitochondrial membrane and bacterial membrane.
Cardiolipin - only human glycerol phospholipid that is antigenic. - it is recognized by antibodies raised against treponema pallium - false positive RPR
148
Essential fatty acids
Lolinoleic acid | Linolenic acid
149
Agent that prevents oxygen from serving as the final electron acceptor in ETC
Cyanide Binds cytochrome c aka complex IV therefore stops any further oxidative phosphorylation
150
ETC Binds the stalk of ATP synthase and blocks re entry of protons into the mitochondrial matrix Or Directly inhibits the mitochondrial ATP synthase causing an increase proton gradient, stoping ATP synthesis.
Oligomycin Stops further electron transport since no gradient, activity results in heat production instead of ATP. Inhibits complex V
151
Directly inhibits electron transport in ETC
Complex 1 : Rotenone Complex 3 : actimycin A Complex 4 : cyanide, CO
152
Complex II of TCA in inner mitochondria is
Succinate dehydrogenase of Krebb's cycle
153
Universal electron transporters
Nicotinamide from niacin 1 NAD+ : catabolic processes 2 NADPH : anabolic process - steroid and FA synthesis - anabolic processes/respi burst/P 459/glutathione reductase Flavin nucleotides fr B2
154
Essential fatty acids
Lolinoleic acid | Linolenic acid
155
Agent that prevents oxygen from serving as the final electron acceptor in ETC
Cyanide Binds cytochrome c aka complex IV therefore stops any further oxidative phosphorylation
156
ETC Binds the stalk of ATP synthase and blocks re entry of protons into the mitochondrial matrix Or Directly inhibits the mitochondrial ATP synthase causing an increase proton gradient, stoping ATP synthesis.
Oligomycin Stops further electron transport since no gradient, activity results in heat production instead of ATP. Inhibits complex V
157
Directly inhibits electron transport in ETC
Complex 1 : Rotenone Complex 3 : actimycin A Complex 4 : cyanide, CO
158
Complex II of TCA in inner mitochondria is
Succinate dehydrogenase of Krebb's cycle
159
Universal electron transporters
Nicotinamide from niacin 1 NAD+ : catabolic processes 2 NADPH : anabolic process - steroid and FA synthesis - anabolic processes/respi burst/P 459/glutathione reductase Flavin nucleotides fr B2
160
Essential fatty acids
Lolinoleic acid | Linolenic acid
161
Agent that prevents oxygen from serving as the final electron acceptor in ETC
Cyanide Binds cytochrome c aka complex IV therefore stops any further oxidative phosphorylation
162
ETC Binds the stalk of ATP synthase and blocks re entry of protons into the mitochondrial matrix Or Directly inhibits the mitochondrial ATP synthase causing an increase proton gradient, stoping ATP synthesis.
Oligomycin Stops further electron transport since no gradient, activity results in heat production instead of ATP. Inhibits complex V
163
Directly inhibits electron transport in ETC
Complex 1 : Rotenone Complex 3 : actimycin A Complex 4 : cyanide, CO
164
Complex II of TCA in inner mitochondria is
Succinate dehydrogenase of Krebb's cycle
165
Universal electron transporters
Nicotinamide from niacin 1 NAD+ : catabolic processes 2 NADPH : anabolic process - steroid and FA synthesis - anabolic processes/respi burst/P 459/glutathione reductase Flavin nucleotides fr B2
166
Thalassemia Low or high hemoglobin ? Low or high MCV
Low hemoglobin, Low MCV Note Spherocytosis has high MCHC due to spheroid shape
167
Enzyme deficient in Porphyria
``` Porphobilinogen deaminase Aka Uroporphyrinogen 1 synthase Aka Porphobilinogen synthase ``` With Accumulation of : 1 aminolevunilate 2 PBG Note: X linked siderobalstic anemia: deficient ALA synthase Inhibits by lead: ALA dehydratase and ferrochelatase
168
Other name for MEN II syndrome
MEN 2A : Sipple's syndrome - ret proto-oncogene - MEN syndromes are AD inheritance pattern MEN 1/ Wermer's: 3 Ps pituitary, parathyroid, pancreas MEN 2A/Sipple's: 2 Ps parathyroid and pheochromocytoma, 1 M medullary thyroid Ca MEN 2B : 1 P pheochromocytoma 2 M medullary thyroid Ca, Marfanoid habitués
169
Chromosome for retinoblastoma and osteosarcoma
Chromosome 13 Rb gene : 13
170
Hereditary Conjugated/Direct Hyperbilirubinemia
Conjugated Dubin-Johnson/Discolored liver Rotor's Syndrome
171
Arrests in human ova development at birth, after puberty
after birth: Meiosis I at PROPHASE I | after puberty: Meiosis II at METAPHASE II
172
Second messengers of G protein coupled receptors kiss/kick/sick/sex: qiss,qiq,siq,sqs
q A1 i A2 s B1 s B2 q M1 i M2 q M3 s D1 i D2 q H1 s H2 q V1 s V2
173
N myc ? C myc ? L myc ?
N myc ? Neuroblastoma C myc ? Burkitt's lymphoma L myc ? Lung tumor
174
``` Define/Give examples Transcription Postranscription modification Translation Postranslational modification ```
TransCription: DNA to RNA Postranscriptional modification: 5'capping, 3'polyadenyation, alternative RNA splicing TransLation: mRNA to protein Postranslational modification: O glycosylation, N glycosylation, Sulfation
175
Drug that inhibits function of micro tubules, kinesins, kinetochore, or centromeres act at what phase of mitosis
Pro metaphase -PPMAT
176
Mutation of V2 receptors cause
Diabetes Insipidus
177
Thalassemia Low or high hemoglobin ? Low or high MCV
Low hemoglobin, Low MCV Note Spherocytosis has high MCHC due to spheroid shape
178
Enzyme deficient in Porphyria
``` Porphobilinogen deaminase Aka Uroporphyrinogen 1 synthase Aka Porphobilinogen synthase ``` With Accumulation of : 1 aminolevunilate 2 PBG Note: X linked siderobalstic anemia: deficient ALA synthase Inhibits by lead: ALA dehydratase and ferrochelatase
179
Other name for MEN II syndrome
MEN 2A : Sipple's syndrome - ret proto-oncogene - MEN syndromes are AD inheritance pattern MEN 1/ Wermer's: 3 Ps pituitary, parathyroid, pancreas MEN 2A/Sipple's: 2 Ps parathyroid and pheochromocytoma, 1 M medullary thyroid Ca MEN 2B : 1 P pheochromocytoma 2 M medullary thyroid Ca, Marfanoid habitués
180
Chromosome for retinoblastoma and osteosarcoma
Chromosome 13 Rb gene : 13
181
Hereditary Conjugated/Direct Hyperbilirubinemia
Conjugated Dubin-Johnson/Discolored liver Rotor's Syndrome
182
Arrests in human ova development at birth, after puberty
after birth: Meiosis I at PROPHASE I | after puberty: Meiosis II at METAPHASE II
183
Second messengers of G protein coupled receptors kiss/kick/sick/sex: qiss,qiq,siq,sqs
q A1 i A2 s B1 s B2 q M1 i M2 q M3 s D1 i D2 q H1 s H2 q V1 s V2
184
N myc ? C myc ? L myc ?
N myc ? Neuroblastoma C myc ? Burkitt's lymphoma L myc ? Lung tumor
185
``` Define/Give examples Transcription Postranscription modification Translation Postranslational modification ```
TransCription: DNA to RNA Postranscriptional modification: 5'capping, 3'polyadenyation, alternative RNA splicing TransLation: mRNA to protein Postranslational modification: O glycosylation, N glycosylation, Sulfation
186
Drug that inhibits function of micro tubules, kinesins, kinetochore, or centromeres act at what phase of mitosis
Pro metaphase -PPMAT
187
Mutation of V2 receptors cause
Diabetes Insipidus

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