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First Aid > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

6-mercaptopurine binds to which enzyme to prevent the formation of GMP, IMP, (and indirectly) AMP?

A

HGPRT

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2
Q

What does HGPRT do?

A

Hypoxanthine guanine phosphoribosyltransferase takes free hypoxanthine and guanine to make IMP and GMP.

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3
Q

Pathophysiology of adenosine deaminase deficiency

A

ADA is used in the breakdown of AMP. If there is a deficiency, there is less DNA precursors

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4
Q

There is a compensatory increase in what with Lesch-Nyhan syndrome?

A

A mutation of HGPRT leads to a defective purine salvage pathway, whose goal is to take free bases to make GMP/IMP.
There is a compensatory increase in purine de novo synthesis to make GMP/IMP which leads to excess uric acid production

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5
Q

The red/organt sand crystals found in Lesch-Nyhand syndrome are made up of what?

A

sodium urate

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6
Q

Symptoms of HGPRT deficiency (Lesch-Nyhan syndrome)?

A

Hyperuricemia
Gout
Pissed off
Red crystals in urine
Tense muscles (dystonia)

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7
Q

MOA of allopurinol

A

Blocks xanthine oxidase which converts hypoxanting to xanthing and eventually uric acid

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8
Q

What does unambiguous means when it comes to the genetic code

A

Each codon only specifies 1 amino acid

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9
Q

Genetic code

Degenerate/redundant meaning

A

1 amino acid can be made by multiple codons.

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10
Q

TATA box regions are typically found where?

A

Found in promoters which are upstream of the origins of replication

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11
Q

Bloom Syndrome (BLM mutation) results in a defiency of what protein

A

Helicase

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12
Q

DNA Polymerase III is found in prokaryotes or eukaryotes?

A

Prokaryotes
It functions to add to the 3’ end of the strand.
It also has proofreading abilities (3-5 exonuclease)

Eukaryotes use alpha.

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13
Q

Function of DNA polymerase I in prokaryotes

A

Degrades the RNA primer and replaces it with DNA. Uses 5-3 exonuclease to do this.

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14
Q

Ataxia telangiectasia is an autosomal recessive immunodefiency that results in what symptoms

A

Ataxia
Spider angiomas
IgA deficiency

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15
Q

Ataxia telangiectasia has a defect in the ATM gene which results in failure to what?

A

Detect DNA damage, leading to an accumulation of mutations. It may have defects in non-homologous end joining.

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16
Q

Dysfunction of homologous recombination of DNA is implicated in what gene mutation?

A

BRCA1/2 and fanconi anemia

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17
Q

Nucleotide excision repair is defective in what disease?

A

Xeroderma pigmentosum
The body is unable to repair (excise) pyrimidine dimers caused by UV exposure
Note that this is a larger gap of DNA than base excision repair

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18
Q

Mismatch repair is defective in what disease?

A

Lynch Syndrome (Hereditary nonpolyposis colorectal cancer)

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19
Q

Lynch syndrome (HNPCC) is an autosomal dominant mutation of what genes?

A

MLH1, MSH2. These are mismatch repair genes.

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20
Q

Lynch Syndrome is associated with which cancers?

A

Merrill Lynch has CEOS
Colon cancer
Endometrial
Ovarian
Skin

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21
Q

Missense mutation

A

Results in a changed amino acid
Example) Sickle cell disease. Glutamic acid –> valine

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22
Q

Nonsense mutation

A

Results in a stop codon

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23
Q

What are the stop codons?

A

UGA - U Go Away
UAA - U Are Away
UAG - U Are Gone

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24
Q

Frameshift mutations are implicated in what diseases?

A

Duchenne muscular dystrophy
Tay-Sachs disease
Cystic fibrosis

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25
Q

Do Introns or Exons contain actual genetic information?

A

Introns are intervening sequences
Exon exit the nucleus and are used for expression

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26
Q

What proteins bind to the promoter region of the DNA coding strand?

A

RNA polymerase II
The point is to start making RNA (transcription) to eventually lead to translation

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27
Q

Enhancers and silencers are found where on DNA strands?

A

They are found upstream to the promotor as well as close to introns in the reading frame

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28
Q

Capping of pre-mRNA, addition of poly-A tail, and splicing of introns occurs inside of the nucleus or in the cytoplasm?

A

Inside of the nucleus

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29
Q

Translation of mRNA occurs in the nucleus or in the cytoplasm?

A

After capping, addition of poly A tail, and splicing of introns, the mRNA is transported to the cytoplasm to be translated

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30
Q

RNA polymerase II is responsible for making snRNA which combines with other proteins to make snRNPs. snRNPs are used for what?

A

Splicing of pre-mRNA to make mRNA

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31
Q

Does the 5’ or 3’ end of tRNA carry amino acids (attachment site)?

A

The 3’ end carries amino acids
CCA - Can Carry Amino

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32
Q

Eukaryotic ribosomes use what subunits?

A

Eukaryotes = 40S and 60s –> 80S
Even

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33
Q

Prokaryotic ribosomes use what subunits?

A

Prokaryotic
30S + 50S –> 70S
Prime

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34
Q

What are the functions of the 3 sites on tRNA?
A
P
E

A

A - receives the incoming Aminoacyl-tRNA
P- growing Peptide
E- exit

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35
Q

Growth factors (Insulin, PDGF, EPO, EGF) bind to what kind of receptors?

A

Tyrosine kinase

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36
Q

Rb and p53 moderate what checkpoints?

A

G1 - S phase
Growth to DNA synthesis phase

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37
Q

What is the outcome of p53 and Rb activation?

A

Tumor suppresion = inhibits growth

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38
Q

Phosphorylating Rb and p53 results in what outcome?

A

Phosphorylating Rb causes it to release E2F –> gene transcription and growth

So this essentially deactivates Rb

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39
Q

Free ribosomes are responsible for making proteins that are going where?

A

Staying in the cytoplasm
Going to the mitochondria
Going into peroxisomes

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40
Q

Nissl Bodies are found in neurons. What are their function?

A

Nissl bodies are the RER for neurons. They synthesize peptide neurotransmitters for secretion

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41
Q

The rough ER is the site of synthesis for what kind of proteins?

A

Exported (secreted) proteins as well as proteins that are needed within organelles

Example) mucus-secreting cells of the intestine and antibody-secreting plasma cells have a lot of RER

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42
Q

N-linked glycosylation occurs where?

A

The Rough eNdoplasmic reticulum

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43
Q

The smooth ER is the site of synthesis for what?

A

Steroids

Example) Hepatocytes, adrenal cortex, and gonads are rich in SER

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44
Q

Addition of O-oligosaccharides on serine and threonine, adding mannose-6-phosphate to proteins for lysosomal degredation occurs where?

A

The Golgi apparatus
These are posttranslational events

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45
Q

I - cell disease is a lysosomal storage disease that is inherited how?

A

Autsomal recessive

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46
Q

I-cell disease pathophysiology

A

Defect where the golgi is not able to add mannose-6-phosphate to proteins which leads to the proteins being excreted instead of sent to lysosomes.

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47
Q

Outcome of I-cell disease

A

Lysosomes dont get the digestive enzymes from the golgi apparatus (due to golgi inability to add mannose 6 phosphate). This leads to a buildup of cellular debris int he lysosomes (inclusion bodies)

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48
Q

Symptoms of I-cell disease

Lysosomal storage

A

Coarse facial features
Gingival hyperplasia
Corneal clouding
Restricted joint movement
Claw hand deformities
Increased plasma levels of lysosomal enzymes (since they are being excreted instead of being stored in lysosomes)

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49
Q

Peroxisomes are membrane enclosed organelles involved in what?

A

B-oxidation of VLCFA
a-oxidation of BCFA
Catabolism of amino acids and ethanol
Synthesis of bile acids

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50
Q

Adrenoleukodystrophy is a peroxisome disorder that is inherited in what way?

A

X-linked recessive

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51
Q

Adrenoleukodystrophy is a peroxisomal storage disorder due to a mutation in ABCD1 gene which effects what process?

A

B-oxidation of VLCFA
Without this oxidation, there is a buildup of VLCFA

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52
Q

VLCFA buildup due to adrenoleukodystrophy usually deposits where?

A

Adrenal glands
White Brain matter
Testes

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53
Q

Vimentin, desmin, lamins, and neurofilaments are all examples of what size cytoskeletal element?

A

Intermediate filaments
These are used to maintain cell structure
Used for tumor identification

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54
Q

Vimentin is used as an immunohistochemical stain to identify what kind of tumors?

A

Mesenchymal tumors (sarcoma) as well as endometrial, renal cell, and meningioma

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55
Q

Cilia, flagella, mitotic spingle, and axon trafficking are all examples of what size skeletal element?

A

Microtubules

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56
Q

REaDY?

Dynein is involved retrograde or anterograde movement to microtubule?

A

Retrograde

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57
Q

AttacK

Kinesin is involved in retrograde or anterograde transport to microtubules?

A

Anterograde

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58
Q

REaDY

C. tetani toxin, poliovirus, rabies, and HSV use what for **retrograde ** transport to the neuronal cell body?

A

Dynein arms

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59
Q

AttacK

HSV reactivation use what for anterograde transport down to the axon terminal

A

Kinesin

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60
Q

Primary ciliary dyskinesia is caused from a defect in what structure?

A

Dynein arms inside of the cilia

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61
Q

Symptoms/Consequences of primary ciliary dyskinesia

A

Kartagener syndrome
HEaring loss due to eustacian tube cilia
recurrent respiratory infections
Infertility (immotile speramtozoa, increased risk of ectopic pregnancy due to fallopian tube cilia)

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62
Q

2 strikes? K you’re in. 3 strikes? Nah you’re not

How many sodium and potassium move via Na/K ATPase

A

ATP binds
Causing 3 sodium to leave and 2 potassium to come inside

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63
Q

Which medication directly blocks Na/K ATPase which indirectly causes an increase in intracellular calcium?

A

Digoxin. The outcome is increased cardiac contractility

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64
Q

Type 1 collagen is found primarly where?

A

This the most common collagen, found in tendone and bone.

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65
Q

Osteogenesis imperfecta has a decreased production of what kind of collagen?

A

Type I collagen (tendon and bone)

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66
Q

Type II collagen is found where?

A

Cartilage
(Cartwolage)

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67
Q

Type III collagen is found where?

A

Reticular collagen
Skin, blood vessels, early would repair

68
Q

Ehlers Danlos Syndrome is deficient in what type of Collagen?

A

Type III (found in blood vessels)
(threE D)

69
Q

Type IV collagen is found where?

A

Basement membrane
(4 under the floor)

70
Q

What type of collagen is defective in Alport Syndrome?

A

Type IV collagen

71
Q

What type of collagen is defective in Goodpasture syndrome?

A

Type IV collagen

72
Q

What is the sequence of collagen processing?

A

Preprocollagen
Procollagen
Tropocollagen
Collagen

73
Q

Hydroxylation of preprocollagen requires which vitamin?

A

Vitamin C. Deficiency in Vitamin C will lead to scurvy

74
Q

Procollagen is a triple helix formed by hydrogen and disulfide bonds. Issues forming this helix results in what disorder?

A

Osteogenesis imperfecta

75
Q

Hydroxylation of preprocollagen
and
Glycosylation of procollagen take place where?

A

In the Rough ER

76
Q

After exiting the cell, procollagen is cleaved at the C and N terminals to form what?

A

Tropocollagen

77
Q

Osteogenesis imperfecta is inherited in what way?

A

Autosomal dominant

78
Q

What are the symptoms of osteogenesis imperfecta?

A

BITE
Bones - fractures
I- eyes - blue sclera
T - teeth imperfections
E - Ear, hearing loss

79
Q

Ehlers-Danlos syndrome - vascular type is due to a defect in what kind of collagen?

A

Type III collagen

80
Q

Ehlers-Danlos Syndrome classical type (hyperextendible joints and skin) is from a defect in what kind of collagen?

81
Q

What cofactor is needed for crosslinking of collagen?

82
Q

Marfan syndrome is a connective tissue disorder due to what genetic defect?

A

FBN1 gene mutation on chromosome 15.
This results in defective fibrillin-1

83
Q

Where is fibrillin 1 found in the body

A

it forms a sheath around elastin

84
Q

A Marfan body type looks like what?

A

Chest wall deformity
Hypermobile joints
Long fingers
Cysteic medial necrosis of aorta
Aortic root aneurysm or rupture or dissection
MVP
Spontaneous pneumothorax

85
Q

What cardiac abnormalities are associated with Marfan syndrome?

A

Aortic root aneurysm or dissection
MVP
Spontaneous pneumothorax

86
Q

Which syndrome is characterized by a long, slender body type and cardiac abnormalities?
Marfans or Ehlers-Danlos

A

Marfans Syndrome

87
Q

BITE

Which connective tissue order presents with blue sclera?

A

Osteogenesis imperfecta

88
Q

Marfan Syndrome results in what type of lens dislocation?

A

Upward/temporal
(Fan out)

89
Q

Homocystinuria is commonly due to what enzyme deficiency?

A

Cystathionine synthase deficiency

90
Q

What is the inheritance of homocystinuria?

A

Autosomal recessive

91
Q

What is the common vascular complication of homocystinuria?

A

Thrombosis

92
Q

SNoW DRoP

What do these blotting procedures detect?

A

Southern - DNA
Northen - RNA
Western - Proteins

93
Q

Flow cytometry is used to identify what?

A

Immunophenotype of individual cells
Cells are tagged with antibodies specific to their surface or intracellular proteins

94
Q

Meaning of variable expressivity

A

2 patients with the disease may have varying severity
Example) NF1

95
Q

Incomplete penetrance meaning

A

Not everyone with the mutation will have symptoms
Example) BRCA1

96
Q

Pleiotropy meaning

A

When one gene contributes to multiple phenotypes
Example) PKU has light skin, intellectual disability, musty body odor

97
Q

What is an example of a disease that exhibits anticipitation?

A

Huntington disease
(Trinucleotide repeat diseases)

98
Q

protooncogenes or tumor suppressors
Which one has a 2 hit hypothesis?

A

Tumor suppressors
Example) Lynch syndrome (MSH1)
Li Fraumenia (p53)

99
Q

B-thalassemia is an example of allelic or locus heterogeneity

A

Allelic heterogeneity
Different mutations on the same locus results in the same disease

100
Q

Heteroplasmy

A

Presence of both normal and mutated mtDNA resulting in variable expression

101
Q

Imprinting meaning

A

When one parent’s gene is silenced by methylation.

Disease occurs when the expressed parent’s gene is mutated or deleted

102
Q

In Prader-Willi syndrome, is the mother or father’s genes silenced?

A

Mothers genes are silenced

103
Q

What chromosome is effected in Prader-Willi Syndrome

A

Chromosome 15

104
Q

Symptoms of Prader Willi Syndrome

A

Hyperphagia (overeating)
Intellectual disability
Hypogonadism
Hypotonia

105
Q

Is the mother or father’s genes silenced in Angelman syndrome

A

The father’s gene is silenced

Disease occurs when the maternal allele is damaged or deleted

106
Q

What gene and chromosome is effected on the mothers DNA in Angelman Syndrome

A

UBE3A on Chromosome 15

107
Q

Symptoms of Angelman Syndrome

A

Hand flapping
Ataxia
Intellectual disability
Inappropriate laughter
Seizures

108
Q

Is Prader Willi or Angelman syndrome more likely to be due to a uniparental disomy?

A

Prader Willi

25% of cases is due to maternal uniparental disomy. If the child receives both chromosome 15s from mother and they are silenced via methylation, then the child will have disease

109
Q

Fragile X syndrome and Alport syndrome are examples of what kind of inheritance?

A

X-linked dominant

110
Q

X-linked recessive disease
Father has disease
Who is at risk

A

No risk to son (father only passes on y)
Daughters are carriers

111
Q

X-linked recessive
Mother is a carrier
Who is at risk?

A

Sons have 50% chance of getting disease

112
Q

X-linked dominant disease
Father has disease
Who is at risk

A

Daughters have 100% risk of being carrier
Sons are not at risk

113
Q

X-linked dominant disease
Mother has disease
Who is at risk

A

Both daughter and sons have 50% chance of being effected

114
Q

Autosomal recessive
Oh Please! Can Students Who Score High Grades Tell Me Features of the Kidney Disorder ARPKD

A

Oculocutaneous albinism
Phenylketonuria
Cystic fibrosis
Sickle cell disease
Wilson Disease
Sphingolipidoses
Hemochromatosis
Glycogen storage diseases
Thalassemia
Mucopolysaccharidoses
Friederick ataxia
Kartagener syndrome

115
Q

Sphingolipidoses

Tay-Sachs disease has what type of inheritance?

A

Autosomal recessive

116
Q

Tay Sax

Tay-Sachs Disease has a deficiency in what enzyme

A

Hexosaminidase A

117
Q

Both Tay-Sachs disease and Neiman Pick have what finding on exam?

A

Cherry-red spot on macula

118
Q

Which disease has a cherry red spot and hepatosplenomegaly?

Tay-Sachs or Nieman Pick

A

Nieman Pick

119
Q

What product is accumulated in Tay-Sachs disease?

A

GM2 ganglioside

120
Q

What enzyme is deficient in Niemann-Pick?

A

Shingomyelinase

121
Q

What substance is accumulated in Niemann-Pick?

A

Sphingomyelin

122
Q

Vice President can’t accept money

What are the 5 glycogen storage diseases?

A

Von Gierke
Pompeii
Cori
Anderson
McArdle

123
Q

What stain is used to see glycogen stored in cells?

A

Periodic acid-Schiff stain

124
Q

Why do patients have hyperuricemia in Von Gierke disease?

A

Glucose 6- phosphatase deficiency results in a build up of glucose 6 phosphate which will then shunt to glycolysis for breakdown. This increases pyruvate and lactic acid (lactic acidosis, metabolic acidosis)

The acidic pH decreases uric acid excretion from the kidneys

125
Q

In Von Gierke disease, which processes are not able to be performed?

A

Glycogenolysis
Glyconeogenesis
Because there is no glucose 6 phosphatase

126
Q

Classic galactosemia usually presents in newborns after receiving breast milk which contains galactose. What are the typical symptoms?

A

Failure to thrive
Jaundice
Cataracts
Intellectual disability

127
Q

What enzyme is deficient in galactosemia?

A

Mild - galactokinase
Severe - galactose 1P uridyltransferase (GALT)

128
Q

Newborn starting to have jaundice after breastfeeding? This is indicative of what kind of inborn error of metabolism?

A

Galactosemia
Severe - GALT deficiency leading to an accumulation of galactose 1 phosphate

129
Q

Glycogen phosphorylase is responsible for releasing glucose 1-phosphate from glycogen. This enzyme is deficient in what disorder?

A

McArdle Disease

130
Q

Cori disease has a deficiency in what enzyme?

A

Debranching enzyme involving in breaking down glycogen to glucose.

131
Q

Symptoms of Cori Disease

A

Hypotonia, mild hypoglycemia (gluconeogenesis is still intact), normal lactic acid

132
Q

Essential fructosemia an autosomal recessive disorder of fructokinase deficiency (1st step). Is this disorder benign or severe?

133
Q

Excess fructose accumulated because of essential fructosemia results in the fructose being shunted to which process?

A

Glycolysis - using hexokinase

134
Q

Hereditary fructose intolerance has a deficiency in what enzyme?

A

Aldolase B which results in an accumulation of fructose 1 phosphate

135
Q

Gi and Gs enzymes signal through which pathway?

A

Adenylyl cyclase

136
Q

Activation of Gi and Gs enzymes result in the activation of what pathway and increase in what product?

A

Activates the adenylyl cyclase pathway leading to an increase in cAMP

137
Q

An increase in cAMP after stimulation of Gs enzyme causes PKA to do what?

A

PKA is a kinase = phosphorylates target enymes

138
Q

RBCs use the HMP shunt to generate what product?

A

NADPH. This is used to regenerate reduced glutathione which is protective against ROS

139
Q

What is characteristic on blood smear of G6PD deficiency?

A

Bite cells - after splenic degredation of bulky heinz bodies

140
Q

Where does the HMP shunt occur in the cell?

A

The cytoplasm

141
Q

Where does the Kreb cycle occur?

A

The inner matrix of the mitochondria

142
Q

The Kreb cycle typically begins with what substrate?

143
Q

What are the products of the Kreb cycle

A

NADH and FADH for the electron transport chain

144
Q

Can I Keep Selling Sex For Money, Officer

What are the intermediates in the TCA cycle?

A

Citrate
Isocitrate
a-ketoglutarate
succinyl-Coa
Succinate
fumarate
malate
oxaloacetate

145
Q

Sucrose is broken down into which 2 sugars?

A

Fructose and glucose

146
Q

In the liver, fructose uses which 2 enzymes to make intermediates for glycolysis?

A

Fructokinase
Aldolase B

147
Q

In the liver, kidney and brain, galactose is broken down to intermediates for glycolysis using which 2 enzymes?

A
  1. Galaktokinase
  2. GALT (galactose-1-phosphate uridyl transferase)
148
Q

GALT deficiency (classic galactosemia) results in increased risk for what infection?

A

E. coli sepsis

149
Q

Muscles use aerobic or anaerobic glycolysis?

A

Anaerobic. It produces lactic acid

150
Q

The Cori cycle moves what from muscles to the liver to make glucose?

A

Lactic acid

151
Q

The urea cycle take place in what location?

A

Liver cells.

152
Q

The urea cycle results in what products?

A

Urea and fumarate which then enter the TCA cycle

153
Q

Ornithine transcarbamylase deficiency is implicated in which cycle?

A

The urea cycle. It results in increased ammonia

154
Q

Urea is measured as what?

155
Q

High ammonia and low urea is indicative of what defiency?

A

Ornithine transcarbamylase deficiency
This shows that the liver is unable to turn ammonia into urea

156
Q

Hyperammonemia can cause asterixis which is what

A

flapping of the hands with wrists extended (hepatic encephalopathy)

157
Q

What is the precursor for Tyrosine

A

Phenylalanine

158
Q

Tyrosine is a precursor for what products?

A

catecholamines (dopamine, adrenaline), melanin, and thyroxine

159
Q

Alkaptonuria is due to a deficiency of what enzyme?

A

homogentisic acid oxidase

160
Q

Alkaptonuria manifests as what symptoms?

A

Black/blue connective tissue

161
Q

Pathophysiology of albinism

A
  1. Tyrosinase deficiency
  2. Tyrosine transporter mutation
162
Q

Homocysteinuria is due to a deficiency in what enzyme?

A

Cystathionine synthase
or methionine synthase deficiency

163
Q

Symptoms of homocysteinuria

A

Mental retardation
Osteoporosis
Tall staure
Kyphosis
Lens sublaxation (down and in) – compare this to Marfan up and out

164
Q

MSUD is due to a deficiency in what enzyme?

A

a-keto acid dehydrogenase which catalyzes the degredation of branched chain amino acids

165
Q

Thiamine (vitamin B1) is used as a cofactor for which enzymes?

A

Branched chain ketoacid dehydrogenase
a-ketogluturate
p
transketolase

166
Q

Duchenne muscular dystrophy pathophysiology

A

Deleted dystrophin gene
Dystrophin helps to anchor muscle fibers to the ECM –> myonecrosis

167
Q

Calf muscles in patients with duchenne muscular dystrophy looks like what

A

Fibrofatty replacement of muscle
Gower’s sign (using hands to help stand)
dilated cardiomyopathy

First Aid (14 decks)

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