PP (BQ, Genetics,GI, IM, Flashcards
0
Q
What is the tale limiting enzyme in the TCA cycle?
A
Isocitrate dehydrogenase
1
Q
What is the rate limiting enzyme in cholesterol synthesis?
A
HMG CoA reductase
2
Q
What is the rate limiting enzyme in pyrimidine synthesis?
A
CPS- II carbamoyl phosphate synthase II
3
Q
What is the rate limiting enzyme in Purine synthesis?
A
Glutamine-PRPP amidotransferase
4
Q
What are the anabolic and catabolic pathway?
A
“HUG”
- Heme synthesis
- Urea cycle
- Gluconeogenesis
5
Q
What is the rate limiting enzyme in Heme synthesis?
A
Delta ALA synthase
6
Q
What is the rate limiting enzyme in Urea cycle?
A
CPS-I carbamoyl phosphate synthetase 1
7
Q
What are the anabolic pathway that store energy?
A
Cytoplasm "EFGH" - ER - Fatty acid synthesis - Glycolysis - HMP shunt
8
Q
What are the catabolic pathway that create energy?
A
Mitochondria "ABC" - AcetylCoA production - Beta-oxidation - Citric acid cycle
9
Q
What does hydrolase do?
A
Breaks a bond with water
10
Q
What is active transport?
A
Goes against concentration gradient
11
Q
What does a Dehydrogenase do?
A
Removes H with a cofactor
12
Q
What does a Thio do?
A
Breaks S bonds
13
Q
What is Potency?
A
Amount of drug needed to produce effect (lower w/comp antagonist)
14
Q
What is Von Gierke?
A
G-6Pase deficiency => hypoglycemia, hepatosplenomegaly
15
Q
What is the T1/2?
A
Half life, the time it takes for the body to use half of the drug ingested
16
Q
What is Cori’s?
A
Debranching enzyme deficiency => short branches of glycogen
17
Q
What is Pompes?
A
Cardiac Alfa 1,4-glucosidase deficiency => DIE early
18
Q
What is McArdle’s?
A
Muscle phosphorylase deficiency => muscle cramps with exercise
19
Q
What is Anderson’s?
A
Branching enzyme deficiency => long chain of glycogen
20
Q
What is Fructosemia?
A
Fructose intolerance (aldolase B deficiency) => liver damage
21
Q
What does a Galactokinase deficiency cause?
A
Cataracts
22
Q
What Galactosemia cause?
A
Cataracts
MR
Liver damage
23
Q
What the Citratae shuttle do?
A
FA transport out of the mitochondria
24
What is Essential Fructosuria?
Fructokinase deficiency => excrete fructose ( still have hexokinase)
25
What does the Carnitine shuttle do?
FA transport into the mitochondria
26
What lysosomal disease have a Gargoyle-face?
Gaucher's
| Hurler's
27
What is Tay-Sachs?
Hexosaminidase A deficiency => blindness, incoordination, dementia
28
What is Sandhoff's?
Hexosaminidase A/B deficiency ( severe form o Tat-Sachs )
29
What is Niemann-Pick?
Sphingomyelinase deficiency => zebra bodies
30
What is Gaucher's?
Glucocerebrocidase deficiency => wrinkled tissue, MP, bone pain
31
What is Fabry's?
Alfa- galactosidase deficiency => corneal clouding, attacks baby's kidneys, X-linked
32
What lysosomal disease have a cherry-red macula?
Tay-Sachs
Niemann-Pick
Sandhoff's
33
What is Krabbe's?
Beta-galactosidase deficiency => globoid bodies
34
What is Metachromatic Leukodystrophy?
Arylsulfatase deficiency => childhood MS
35
What is hunter's?
Iduronidase deficiency, milder form
36
What is Hurler'?
Iduronidase deficiency, worse form
37
What is Lesch-Nyhan?
HGPRT deficiency => defect of the salvage pathway
Finding: gout, neuropathy, self-mutilation, aggression, retardation, hyperuricemia
X-linked
38
What do white diaper crystal suggest?
Excess orotic acid
39
What does biotin donate methyl groups for?
Carboxylation
40
What does the THF donate methyl groups for?
Nucleotides
41
What is a transition?
Change 1 purine to another purine
42
What is de difference b/w Heterrochomatin and Euchromatin?
Heterochromatin => tightly coiled (inactive)
| Euchromatin => loos 10nm fibers (active)
43
What does SAM donate methyl groups for?
All other reactions
Require for:
- conversion of NE to epinephrine
44
What are the Pyrimidines?
C, U, T
| Have a one ring structure
45
What are the Purines?
Adenine, guanine
| Have a two rigs structure
46
What is a point mutation?
Changes 1 base
47
What is a silent mutation?
Changes leave the same amino acid
| Base change in the 3rd position of codon
48
What is a transversion?
Change 1 purine to a pyrimidine
49
What is a frameshift mutation?
Insert or delete 1-2 bases => result in a nonfunctional protein
Change result in misreading
50
What is a nonsense mutation?
Early stop codon
51
What does a Southern blot detect?
DNA
52
What is a missense mutation?
Mistaken amino acid substitution
53
What does a Western blot detect?
Protein
54
What are the essential amino acids?
" PVT TIM HALL"
- Phe
- Val
- Trp
- Thr
- Ile
- Met
- His
- Arg
- Leu
- Lys
55
What are the essential fatty acids?
Linolenic
| Linoleic
56
What are the acid amino acids?
Asp
| Glu
57
What does a Northen blot detect?
RNA
58
What are the sulfur-containing amino acids?
Cys
| Met
59
What are the O-bond amino acids?
Ser
Thr
Tyt
60
What are the N-bond amino acids?
Asn
| Glen
61
What are the branched amino acids?
Leu
Ile
Val
62
What are the aromatic amino acids?
Phe
Try
Trp
63
What are the basic amino acids?
Lys
Arg
His
64
What are the ketogenic amino acids?
Lys
| Leu
65
What are the glucogenic + ketogenic amino acids?
" PITT"
- Phe
- Iso
- Thr
- Trp
66
What are the glucogenic among acids?
All the res
67
What amino acids does Trypsin cut?
Lys
| Arg
68
What is the smallest amino acid?
Gly
69
What amino acids does beta-ME cut?
Cys
| Met
70
What amino acids does chymotripsin cut?
Phe
Tyr
Trp
71
What does Carboxypeptidase cut?
Left of any amino acid on the carboxy terminal
72
What amino acid turns yellow on Nurhydrin reaction?
Proline
73
What amino acids does Acid Hydolysis denature?
Asn
| Gln
74
What does CNBr cut?
Right of Met
75
What does Marcaptoethanol cut?
Right Cys, Met
76
What does Elastase cut?
Right Gly, Ala, Ser
77
What does Aminopeptidase cut?
Right of N terminus
78
What does Trypsin cut?
Arg
| Lys
79
What does Alfa-AT do?
Inhibits Trypsin from getting loose
80
What does chymotrypsin cut?
Phe
Tyr
Trp
81
What is Albinism?
No Try -> Malanin (via tyrosinase)
82
What is Hartnup's?
No Trp = Niacin + Serotonin
- presents like pellagra
- can mimic corn-rich diet
83
What is Maple Syrup Urine disease?
Defective metabolism of branched amino acids ( Leu, Iso, Val)
Amino acids leak out
84
What is homocystinuria?
```
No Homocysteine -> Cys: " COLA" stone
Cystine
Ornithine
Lysine
Arginine
```
85
What is pellagra?
Niacin deficiency
- Dermatitis
- Dementia
- Diarrhea
- Death
86
What is PKU?
```
No Phe -> Try ( via Phe hydroxylase)
Nutrasweet sensitivity
MR
Pale
Blond hair
Blue eyes
Musty odor
```
87
What does B5 do?
Component of CoA and FA synthesis
88
What causes lateral leg bowing?
Rickets
89
What are the names of the B vitamins?
```
B1 - Thiamine
B2 - Riboflavin
B3 - Niacin
B4 - Lipoic acid
B5 - Pantotemic acid
B6 - Pyridoxine
B7 - Biotin
B9 - Folate
B12 - Cobalamin
```
90
What causes anterior leg bowing?
Neonatal syphilis
91
What does B4 do?
Glycolisis
92
What does B1do?
Thiamine pyrophosphate ( TPP) coenzyme for: Pyruvate Dehydrogenase, alpha-ketoglutarate dehydrogenase, branched-chain ketoacid dehydrogenase, transketolase
Findings:
Wet and dire beriberi
Wernicke - ataxia, nystagmus ( post temporal lobe)
Korsakoff - confabulation ( mammillary bodies)
93
What does B2 do?
FAD cofactor
Angular cheloisis
Magenta colored tongue
94
What does B3 do?
NAD cofactor
95
What does vit A?
Night vision
CSF production
PTH
96
What does B6 do?
```
Transaminase cofactor (AST/ALT)
Myelin integrity
Deficiency - neuropathy
```
97
What dose B9 do?
Nuclear division
| Purine synthesis
98
What does B12 do?
Cofactor for HMT ( to make THF) and MMM ( needed in prevention of myelin neuropathy)
Absorbed in proximal ileum
99
What does vit C do?
Collagen synthesis
Catecolamine synthesis
Absorption of iron and free radicals in the GI
100
What does vit D do?
Mineralization of bone, teeth
101
What does vit K do?
Clotting
102
What does Biotin do?
Carboxylation
103
What does Ca do?
Neuronal function
Atrial depolarization
SM contractility
104
What does Cu do?
Collagen synthesis
105
What does Fe do?
Hb function
| Electron transport
106
What is Bronze pigmentation?
Fe deposit in skin
107
What is Broncen Cirrhosis?
Fe deposit in liver
108
What si Bronzen diabetes?
Fe deposit in pancreas
109
What is Hemosiderosis?
Fe overload in bone marrow
110
What is Hemochromatosis?
Fe deposit in organs
111
What does Mg do?
PTH and kinase cofactor
112
What does Zn do?
Taste buds
Hair
Sperm function
113
What does Cr do?
Insulin function
114
What does Mo do?
Purine breakdown (Xanthippe oxidase)
115
What does Mn do?
Glycolysis
116
What does Se do?
Heart function -> dilated cardiomyopathy
117
What does Sn do?
Hair
118
What is Kwashiorkor?
```
Malabsorption
Big belly (ascites)
Protein deficiency
```
119
What is marasmus?
Starvation
Skinny
Calorie deficiency
120
What does the Pre label send stuff to?
ER
121
Where does Pro lable send stuff to?
Golgi
122
Where does the Manose-6-P send stuff to?
Lysosomes
123
Where does the N-terminal sequence send stuff to?
Mitochondria
124
How does Scleroderma pigmentosa present?
Tight skin
125
How does Ehlers Danlos present?
Hyper stretchable skin
126
What are the 4 types of collagen?
"SCAB"
- Type I: skin, bone, tendons
- Type II: connective tissue,aqueous humor, cartilage
- Type III: arteries, granulation tissue
- Type IV: basement membrane
127
How does Homocystinuria present?
Dislocated lens from top -> look down
128
How does Kinky hair disease present?
Hair looks like copper wire ( Cu deficiency)
129
How does Scurvy present?
Bleeding gums
| Bleeding hair follicles
130
How does Takayasu arteritis present?
Asian female with very weak pulse
131
What is the typical incidence of rare things?
1-3%
132
How does Osteogenesis Imperfecta present?
Shattered bones
| Blue sclera
133
How does Marfan's present?
```
Hyperextensible joint
Arachnodactyly
Wing span longer than height
Aortic root dilation
Aortic aneurysm
Mitral valve prolapse
Dislocated lens from bottom of eye -> look up
```
134
What is the typical incidence with 1 risk factor?
10%
135
What is the typical incidence with 2 risk factor?
50%
136
What is the typical incidence with 3 risk factor?
90%
137
What does AD usually indicate?
Structural problem
| 50% chance of passing it on
138
What does AR usually indicate?
Enzyme deficiency
1/4 get it
2/3 carry it
139
What are the X-linked Recessive deficiency?
Lesch Nyhan -> HGPRT def. ( self mutilation, gout, neurophaty)
Hunter's -> iduronidase def.
Fabry's -> Alfa-galactosidase def. ( corneal clouding, attack baby
kidney)
PDH def.
G6PD def. -> infxn, hemolytic anemia
CGD -> NADPH oxidase def.
140
Where did X-linked Recessive disease come from?
From maternal uncle or grandpa
141
Where did the X-linked Dominant disease come from?
Dad -> daughter
142
What are the Mitochondrial disease come from?
Mom to all kinds
143
What are the X-linked dominant diseases come from?
Vit D resistant Rickets ( kidney leaks phosphorus): waddling gait
Pseudohypoparathyroidism: sausage digit, osteodystrophy
144
Why do we only have 6h to use t-PA?
The bodie have irreversible cell injury
145
What is Trisonomy 18?
Edward's
- rocket bottom feet
- clenched fists
146
What is Turner's?
(X,O)
- web neck
- cystic hygroma
- shield chest
- contraction of the aorta
* different pulses on PE
* rib notching
* differential cyanosis
- rib notching
147
What is Klinefelter's?
(47, XXY)
- tall
- gynecomastia
- infertility
- low testosterone
148
What is Trisonomy 13?
Patau's (lives only 2-3 month)
- polydactyly
- high arch palate
- pee problem
- holoprosencephaly
149
What is XXX syndrome?
(47,XXX)
| - normal female w/tow Barr bodies
150
What is XYY syndrome?
(47,XYY) tall aggressive male
151
Why do we stop CPR after 20-30min?
The brain have irreversible cell injur
152
What disease has a Dinucleotide repeats?
HNPCC
153
What disease have trinucleotide repeats?
Huntington's
Fragile X
Myotonic distrphy
Fredreich's ataxia
154
What is anaplasia?
Regress to infantil state
155
What is Angelmans?
Happy puppet syndrome
| Ataxia
156
What is Prader-Willi?
Hyperphagia
Hypogonadism
Almond-shape eyes
157
What is Kallman's?
Anosmia
| Small test
158
What is Trisonomy 21?
Down's
- simian crease
- wide 1 and 2 toes
- macroglossia
- Mongolian slant of eyes
- brushfiels spots
- retardation
159
What is Desmoplasia?
Cell wraps itself w/ dense fibrous tissue
160
What is dysplasia " carcinoma insitus"?
Lose contact inhibition (cell crawl on each other)
161
What is hyperplasia?
Increase cell number
162
What is hypertrophy?
Increase cell size
163
What is metaplasia?
Change from one adult cell type to another
164
What is atrophy?
Decrease organ or tissue size
165
What is benign?
```
Well circumscribe
Freely movable
Maintains capsule
Obeys physiology
Hurts by compression
Slow growing
```
166
What does Adeno tell you?
Glandular
167
What is malignant?
```
Not well circumscribe
Fixed
No capsule
Doesn't obey physiology
Hurts by metastasis
Rapidly growing ( outgrows blood supply -> hunts for blood -> secretes angiogenin and endostatin to inhibit blood supply of other tumors)
```
168
What are the fastest killing cancers?
Pancreatic
| Esophageal
169
What is neoplasia?
New growth
170
What does Leiomyo tell you?
Smooth muscle
171
What does Rhabdomyo tell you?
Skeletal muscle
172
What does Hemangioma tell you?
Blood vessel
173
What does Lipo tell you?
Fat
174
What does Osteo tell you?
Bone
175
Disease of Type IV collagen?
Goodpasture syndrome
Alport disease
Epidermolysis bullosa
176
What does -oma tell you?
Tumor
177
What does Fibro tell you?
Fibrous tissue
178
Disease of Type III collagen?
Ehlers-Danlos type IV
| Keloid formation
179
Disease of Type I collagen?
Osteogenesis Imperfecta
| Ehlers-Danlos
180
What does -carcinoma tell you?
Cancer
181
What does -sarcoma tell you?
Connective tissue cancer
182
What is a Hamartoma?
Abnormal growth of normal tissue
183
What is a Choristoma?
Normal tissue in the wrong place
184
What is the most common anterior mediastinum tumor?
Thy momma
185
What in the most common middle mediastinum tumor?
Pericardial
186
What is the most common posterior mediastinum tumor?
Neuro tumors
187
What organs have the most common occurrence of metastasis?
" BBLLAP"
- Brain
- BOne
- Lung
- Liver ( portal vein, hepatic artery)
- Adrenal gland ( renal arteries)
- Pericardium ( coronary arteries)
188
What cancers have psammoma bodies?
"SPAMM"
- Serous (ovary)
- Papillary(thyroid)
- Adenocarcinoma ( ovary)
- Meningioma
- Mesothelioma
189
What cancer has CA-19?
Pancreatic
190
What cancer has Rb?
Ewing's sarcoma
Retinoblastoma
Osteosarcoma
191
What cancer has S-100?
Melanoma
Neuronal tumor
Astrositomas
192
What cancer has CEA?
Colon
Pancreatic
Gastric
Breast
193
What cancer has AFP?
Liver
| Yolk sac
194
What cancer has BRCA?
Breast
| Ovarian
195
What cancer has PAS?
Prostate
196
What cancer has CA-125?
Ovarian ( malignant epithelial tumor)
197
What cancer has Ret?
Medullary thyroid cancer
| MEN II y III
198
What cancer has Ras?
Colon
199
What cancer has bcl-2?
Follicular lymphoma
200
What cancer has c-myc?
Burkitt's lymphoma
201
What cancer has L-myc?
Small cell lung carcinoma
202
What cancer has N-myc?
Neuroblastoma => pseudorosette
203
What cancer has Bombesin?
Neuroblastoma
Lung
Gastric
204
What cancer has beta-HCG?
Choriocarcinoma
Hidatid fom mole
Gestational throphobladtic tumor
205
What has t(14,18)?
Follicular lymphoma (bcl-2 gene)
206
What has t(9,22)?
CML (brc-abl gene)
207
What has t(11,22)?
Ewing's sarcoma
208
What cancer has 5-HT?
Carcinoid syndrome
209
What has t(15,17)?
AML M3
210
What has t(8,14)?
Burkitt's lymphoma ( c-myc gene)
211
What has HLA A3,A6?
Hemochromatosis
212
What has HLA B5?
Behcet's
213
What has HLA B13?
Psoriasis without arthritis
214
What has HLA B27?
Psoriasis
Ankylosing spondylitis
Reiter's
IBS
215
What has HLA DR2?
Goodpasture's
MS
SLE
216
What has HLA DR3?
Celiac sprue
DM Type I
Grave's disease
217
What has HLA DR4?
Pemphigus vulgaris
RAÚL
DM Type I
218
What has HLA DR5?
Pernicious anemia
| Hashimotos Thyroiditis
219
Aplasia
Failures of cell production during embryogenesis
| Ex: unilateral renal agenesis
220
Hypoplasia
Decrease in cell production during embryogenesis
Result in relative small organ
Ex: streak ovary in Turner Syndrome
221
Pyknosis
Nucleus turn small
222
Karyorrhexis
Fragmentation of nucleus
223
Karyolysis
Disolvment of nucleus
224
Heterochromatin?
Condensed
Transcriptionally INACTIVE
Sterically inaccessible
225
Euchromatin?
Less condensed
Transcriptionally ACTIVE
Sterically accessible
226
Histones are?
Positively charge
Rich in lysine and arginine
Histone Octamer form a nucleosome ( H2A, H2B, H3, H4) 2 of each
H1 is between each nucleosome
227
Histone Methylation and Acetylation?
Methylation -> inactivates transcription of DNA
| Acetylation -> relax DNA coiling, allowing transcription
228
What is Orotic Aciduria?
```
Inability to convert orotic acid to UDP
Defect in the UMP synthase
AR
Findings: Megaloblastic anemia, failure to thrive and normal ammonia
Tx: oral uridine
```
229
Which are the AA necessary for purine synthesis?
Glycine
Aspartate
Glutamine
230
What is a Missense mutation?
Change of AA
231
Origin replication?
Initiation of replication
Proka: single
Euka: multiple
232
Replication fork?
Synthesis of the leading and lagging strand
233
Helicase?
Unwinds DNA
234
Single-strand binding protein?
Prevents Reannealing
235
DNA Topoisomerase?
Relieve supercoil
236
Primase?
Makes RNA primer
237
DNA Polymerase I and III?
Only in prokaryote
Poly I-> degrades RNA primer (5'-3')
Poly III -> elongation
238
DNA ligase?
Seals
239
Telomerase?
Ads DNA at 3' end of chomosome in every duplication
240
Types of RNA?
rRNA -> synthesis in the NUCLEOLUS, most abundant (RNA Poly I makes it)
mRNA -> synthesis in the NUCLEOPLASM, the longest (RNA Poly II makes it)
tRNA -> synthesis in the NUCLEOPLASM, the smallest (RNA Poly III makes it)
241
What is an Intron?
Noncoding segments of DNA which stay in the nucleus
242
What is an Exon?
Coding sequence for specific protein products that LEAVE the nucleus
243
Molecular motor proteins?
```
Dynein = retrograde to microtubule ( + -> -)
Kinesin = anterograde to microtubule ( - -> +)
```
244
What is the rate limiting enzyme for ketogenesis?
HMG-CoA reductase
245
What is the limiting enzyme in the HMP shunt?
G-6PD
