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AUC Med > MCB > Flashcards

MCB Flashcards

1
Q

What are the four types of cell-cell communication?

A

Endocrine
Paracrine
Neuronal
Contact-dependent

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2
Q

In what type of secretion does a cell secrete a signal that is recognized by its own receptors?

A

Autocrine signaling

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3
Q

What two major signaling pathways use GPCR’s?

A

1) Creates cAMP as 2nd messenger using adenyl cyclase as effector protein-> PKA(serine/threonine kinase), can be Gs or Gi
2) Gq activation, creates DAG and IP3 as 2nd messengers using phospholipase C (PLC) as effector protein -> activates PKC (serine/treonine kinase)

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4
Q

Emery-Dreifuss muscular dystrophy

A

-EMD and LMNA mutations
-Early childhood onset
-Contractures (joint deformities): restricted movement of elbows, ankles and neck
Muscle weakness
Heart problems

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5
Q

Dilated Cardiomyopathy

A
  • 30 genes (LMNA rarely) cause fragile lamina

- Enlarged heart, arrhythmis, SOB, fatigue, syncope, swelling in hands/feet

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6
Q

Lipodystrophy

A
  • LMNA mutations
  • AD
  • Fat loss in limbs, increased in face/neck/abdomen
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7
Q

Hutchinson-Gilford Progeria Syndrome

A
  • LMNA mutations = abnormal lamin A= premature cell death
  • AD
  • Rapid aging, beginning in infancy
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8
Q

Spinal Muscular Atrophy

A
  • SMN gene mutations = motor neuron death
  • AR
  • Four types
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9
Q

Type I spinal muscular atrophy

A
  • aka Werdnig-Hoffman disease
  • Evident at birth or very early
  • Developmental delay, no support of head, cannot sit, breathing/swallowing problems
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10
Q

Type II spinal muscular atrophy

A
  • Muscle weakness starting 6-12 mo.

- Cannot stand/walk unaided

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11
Q

Type III spinal muscular atrophy

A
  • aka Kugelberg-Welander disease
  • Milder features, develop in early childhood- adolescence
  • Walking/ climbing stairs is difficult, usually require wheelchair later on
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12
Q

Type IV spinal muscular atrophy

A
  • Sx after age 30

- mild/moderate PROXIMAL muscle weakness, tremor, twitch, breathing problems

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13
Q

Cystic Fibrosis

A
  • CFTR mutation = abnormal chloride transporters= thick mucus
  • AR
  • Respiratory and pancreatic problems (decreased insulin and digestive enzymes)
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14
Q

Familial Hypercholesterolemia

A
  • LDL receptor gene mutation = decreased cholesterol uptake
  • AD
  • Tendon xanthomas, xanthelasma, corneal arcus, premature atherosclerosis, angina
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15
Q

I-cell Disease (Mucolipidosis II) cause:

A

-GNPTAB gene mut. = abnormal N-acetylglucosamin phosphotransferase = no M6P tag on lysosomal enzymes =lysosomes lack enzymes = accumulations in lysosomes

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16
Q

I-cell Disease (Mucolipidosis II) inheritance pattern and symptoms

A
  • AR
  • Alpha/beta
  • Bone deformities, kyphosis, clubfeet, contractures, dystosis complex
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17
Q

All LSD’s except which 3 are autosomal recessive?

A

Fabry disease, Hunter’s disease (MPS II), and Dannon disease are all X-linked

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18
Q

Three main categories of LSD’s

A

Mucopolysaccharidoses, Mucolipidoses, Sphingolipidoses

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19
Q

Give 6 examples of mucopolysaccharidoses

A 
Hunter syndrome
Hurler syndrome
Sanfilippo syndrome
Morquio syndrome
Maroteaux-Lamy syndrome
Sly syndrome
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20
Q

Give an example of each type of mucolipidoses (3)

A

I: sialidosis
II: I-cell disease
III: Pseudo-Hurler polydystrophy

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21
Q

Give 6 examples of sphingolipidoses

A 
Gaucher's disease
Niemann-Pick disease
Tay Sach's disease
Metachromatic leukodystrophy
Krabbe disease
Fabry's disease
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22
Q

Disease resulting from an accumulation of glucocerebrosides

A

Gaucher’s disease

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23
Q

Disease resulting from an accumulation of sphingomyelin and cholesterol

A

Niemann-Pick disease

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24
Q

Disease resulting from mutation in hexoaminidase A => Gm2 gangliosidosis

A

Tay Sach’s disease

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25
Q

Disease resulting from an accumulation of sulfatides d/t deficiency of arylsulphatase A (ARSA)

A

Metachromatic leukodystrophy

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26
Q

Disease resulting from an accumulation of galactocerebrosides

A

Krabbe disease

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27
Q

Disease resulting from an accumulation of globosides. Alpha-galactosidase A => ceramide trihexoses

A

Fabry disease

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28
Q

Symptoms of this disease are ataxia and dementia d/t destruction of myelin

A

Metachromatic leukodystrophy

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29
Q

Type of LSD that involves defective degredation of GAG’s/ accumulation of sulfated polysaccharides

A

Mucopolysaccharidosis

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30
Q

Maturation of early endosomes containing endocytic vesicles to late endosomes occurs via:

A

Multivesicular bodies

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31
Q

____ in membrane pumps H+ into lysosome, maintaining acidic pH

A

V-type ATPase

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32
Q

Where does packaging of lysosomal enzymes into vesicles occur?

A

The golgi network

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33
Q

MP6 Tag put on in cis-Golgi by:

A

GlcNAc phosphotransferase

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34
Q

To be formed, lysosomal membranes are coated by:

A

clathrin

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35
Q

If lysosome can’t degrade material within it, it becomes a ____, and either expels material from the cell or it remains as ____.

A

Residual body, lipofuscin

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36
Q

The most severe MPS, involves physical and mental deterioration from 2-4y.o., hepatosplenomegaly, skeletal deformity, coarse facial features, and corneal clouding. Death <10yrs.

A

Hurler Syndrome

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37
Q

MPS syndrome similar to Hurler syndrome but X-linked, milder, and without corneal clouding

A

Hunter Syndrome

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38
Q 
Peripheral neuropathy
Heart disease
Renal disease
Alpha-galactosidase A: Ceramide Trihexosides
X-linked
A

Fabry Disease

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39
Q 
Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells
Galactocerebrosidase: Galactocerebrosides
A

Krabbe Disease

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40
Q 
Hepatosplenomegaly
Neurodegeneration
Foam cells
Zebra bodies in lipid-laden cells
Sphingomyelinase: sphingomyelin
Cherry red macula
A

Niemann-Pick

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41
Q

Ataxia and Dementia
Demyelination
Alrylsulfatase A: Sulfatides

A

Metachromatic Leukodystrophy

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42
Q

Neurodegeneration
Cherry red macula
Onion skinning of lysosomes
Hexosaminidase A: GM2 gangliosides

A

Tay Sachs Disease

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43
Q

Hepatosplenomegaly
Bone issues
Tissue paper cytoplasm
Glucocerebrosidase: Glucocerebrosides

A

Gaucher Disease

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44
Q

Rare AR disorder
Delayed fusion of phagosome with lysosome in leucocytes
Autophagocytosis of melanosomes in melanocytes → albinism
Granular defects in NK cells & platelets

A

Chédiak-Higashi syndrome

USMLE = defect in microtubule polymerization

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45
Q

Name for receptors in peroxisome membrane that import cytosolic proteins

A

peroxins

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46
Q

C terminal SKL (Ser-Lys-Leu) import signal (PTS1 signal)

A

Peroxisome import signal

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47
Q

Peroxisome import signal

A

C terminal SKL (Ser-Lys-Leu) import signal (PTS1 signal)

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48
Q

2 peroxisomal reactions

A

Oxidases use O2 to remove H atoms from organic substrates

Catalases use H2O2 to oxidise toxins

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49
Q

80-90% of myelin membrane phospholipids made of this ether bonded molecule

A

plasmalogen

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50
Q

Xanthine oxidase degrades purines to ____

A

Uric acid

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51
Q

VLCFA’s can only be degraded where?

A

Peroxisome

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52
Q

PEX mutations = Defective peroxisomal biogenesis (peroxins don’t recognize SKL/PTS signals) in a spectrum of disorders called:

A

Zellweger spectrum- leads to peroxisome deficiency

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53
Q

Defective membrane protein that imports VLCFAs causes accumulation in glial cells leading to myelin breakdown and adrenal cortex leading to atrophy in a disease called:

A

X-linked Adrenoleukodystrophy (XALD)

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54
Q

Method to detect/analyze RNA

A

Northern blot (pride with cDNA)

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55
Q

Method to detect/analyze protein

A

Western blot

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56
Q

Method to detect/analyze DNA

A

Southern blot

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57
Q

Type of analysis used in criminal forensics

A

Restriction Fragment Length Polymorphism (RFLP)

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58
Q

A process that exploits the re-annealing properties of DNA and depends on complimentary base pairing

A

Molecular Hybridization

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59
Q

Enzymes that cut at specific 4-8 bp palindromes, it’s site sequencing is useful in analyzing DNA and verifying mutations

A

Restriction enzymes

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60
Q

Southern blot digests DNA using what type of enzyme?

A

Restriction

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61
Q

The probe for a Western blot analysis is:

A

Anti-target monoclonal antibody

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62
Q

_____’s use multiple immobilized simple targets and very complex probes to analyze DNA, allowing unlimited parallel assays

A

Microarrays

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63
Q

_____ arrays are replacing Northern blot

A

Expression

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64
Q

_____ arrays are replacing Southern blot

A

Genomic

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65
Q

A very large constructed plasmid used to carry big pieces of DNA into bacteria when cloning

A

Bacteria Artificial Chromosome (BAC)

66
Q

In cloning genomic DNA, we learn nothing about _____ of gene product.

A

Expression

67
Q

A ____ library is made from isolating mRNA and synthesizing a dscDNA. It is easier and faster to study gene _____.

A

cDNA, expression

68
Q

A library of DNA that represents the entire genome of an organism

A

Genomic library

69
Q

A library of cDNA molecules which represents all mRNAs expressed in a particular cell or tissue

A

cDNA library

70
Q

A library of cDNAs cloned into expression vectors (modified plasmid or virus) that also represents all mRNAs but also allows encoded proteins to be made in eukaryotic host

A

Protein Expression Library

71
Q

A tissue specific assay in which limited digestion by DNase marks regions in chromosomes that lack nucleosomes and thus can bind TFs, reflecting cell-specific gene expression

A

DNAse Hypersensitivity Assay

72
Q

What genes typically encode enzymes which have sensitive assays or unique activities?

A

Reporter genes

73
Q

What is a commonly used reporter gene in mammalian systems?

A

Luciferase (glow)

74
Q

What gene modification is useful for studying normal/mutant gene interactions?

A

Gene knock-in

75
Q

What gene modification is useful for studying the effect of point mutations?

A

Gene replacement

76
Q

What gene modification is useful for studying gene deletions?

A

Gene knockout

77
Q

A process that adds a 28bp artificial ds microRNA to the cell which is modified by dicer and loaded to RISC, capitalizing on the cells native microRNA mechanism to silence a target sequence

A

RNAi (interference)

78
Q

Viral vector gene therapies deliver factors to produce:

A

IPS cells (induced, pluripotent stem cells)

79
Q

A gene therapy for severe combined immunodeficiency, ______ involves removing and reintroducing cells

A

Ex vivo stimulation of immune system

80
Q

In _____ therapy, a patient’s T cells are re-engineered using a chimeric ab receptor to be very specific

A

CAR T-cell Immunotherapy

81
Q

What is the main catalytic component of the RISC complex?

A

Argonaut

82
Q

_____ allows specific gene editing by homologous recombination by substituting a sequence of interest for the original RNA guide.

A

CRISPR/Cas9

83
Q

Gene editing alternative that involves fusion of a transcription activator-like DNA binding domain with a restriction endonuease (usually Fok1)

A

TALEN

84
Q

Two alternatives to CRISPR/cas9 gene editing

A

TALEN and ZFN

85
Q

Gene editing mechanism that seems to be more programmable, specific, and efficient

A

BuD/Fok1

86
Q

Two physical methods for DNA transfer into stem cells or eggs

A

Modified liposomes, electroporation

87
Q

Yamanaka factors

A

Four genes carried on a retrovirus that can reprogram skin cells to become iPSCs

88
Q

____ complexes actively reposition nucleosomes

A

Chromatin remodeling

89
Q

Sequences like enhancers, silencers, and insulators are on the same DNA as the gene being transcribed and so are considered:

A

Cis-acting

90
Q

What kind of mapping identifies regulatory boxes that control a gene?

A

Deletion and mutation mapping

91
Q

Gene activation by steroid (4 steps)

A
  1. Diffusion
  2. Binding of hormone receptor protein in cytoplasm
  3. Receptor dimerizes and translocates into nucleus
  4. Binds to promoter (hormone response) element - acts like TF, recruits co-activator/repressor to begin chromatin remodeling
92
Q

Point mutations in the zinc finger TF GATA4 result in what malformation that results in 50% of what surgery in the US?

A

Bicuspid aortic valve, valve replacement

93
Q

Mutations in HOXD13 TF result in what malformation?

A

Synpolydactyly

94
Q

Mutations in Runx2 result in an AD haploinsufficiency disease called:

A

Cleidocranial dysplasia

95
Q

Mutations in Lmx1b TF result in AD dorso-ventral patterning of limbs called:

A

Nail Patella Syndrome

96
Q

Globin synthesis in reticulocytes is regulated by (unstable) phosphorylation of:

A

eIF2

97
Q

~50% of protein encoding genes lack a TATA box and have CpG islands, they are called:

A

Housekeeping genes

98
Q

An AD type of hemolytic anemia in which there is an erythrocyte spectrin deficiency, RBCs are spheroidal, and splenectomy can improve symptoms is:

A

Hereditary spherocytosis

99
Q

What is the default pathway for secretion which is followed by vesicles destined for the apical or basolateral plasma membrane?

A

Constitutive secretion

100
Q

Vesicles with a signal that are destined for the plasma membrane follow ____ secretion pathways

A

Regulated

101
Q

In transcytosis, which involves both endo- and exocytosis, what determines the direction of vesicles movement?

A

pH

102
Q

The coat type that travels from ER to GN is:

A

COPII

103
Q

The coat type that is involved with endocytosis is:

A

Caveolae

104
Q

The coat type involved with transport from TGN to the ER is:

A

COPI

105
Q

The coat type involved in ER and plasma membrane traffic is:

A

Clathrin

106
Q

KDEL and KXXX are tags for:

A

ER

107
Q

What protein is involved with vesicle docking?

A

Rab-GTP

108
Q

What 2 G-proteins are recruited by GEF to help with vesicle formation?
When they and the COP coat disassemble, what is exposed?

A

ARF/SAR-GTP, v-SNARE

109
Q

After the vesicle is docked, what proteins help with fusion? What proteins release the complex after fusion?

A

V and T SNARES, NSF/SNAPS

110
Q

In what disease is ACETYLCHOLINE release inhibited due to cleavage of v-SNARES by a toxin?
What symptom results?

A

Botulism, flaccid paralysis

111
Q

In what disease is GABA/GLYCINE release inhibited due to cleavage of v-SNARES by a toxin?
What symptom results?

A

Tetanus, spastic paralysis

112
Q

What disease results from a deficiency of alpha-L-iduronidase resulting in accumulation of dermatology sulfate and heparin sulfate?

A

Hurler Syndrome (MPS 1)

113
Q

In the cis golgi, oligosaccharide modification is ____ linked and glycosylation is ____ linked

A

N, O

114
Q

M6P tag is added in the ___ golgi

A

Cis

115
Q

Sulfate is added in what part of the golgi?

A

Trans

116
Q

What cell membrane component is flipped from the inner to outer leaflet to signal apoptosis?

A

Phosphatidylserine

117
Q

Adrenergic and olfactory receptors are:

A

G-Protein Coupled Receptors

118
Q

GFR’s and Insulin use what type of receptors?

A

Receptor Tyrosine Kinases (RTK’s)

119
Q

TGF beta uses what type of receptor?

A

Serine/threonine Kinase Receptor

120
Q

Cytokine and integrin receptors are:

A

Receptors without kinase activity (linked to seperate TK)

121
Q

Neurotransmitter receptors are:

A

Ion channel-linked receptors

122
Q

An example of receptor TK use would be:

A

GFR’s and insulin use RTK’s

123
Q

An example of GPCR use would be:

A

Adrenergic, chemokine, rhodopsin and olfactory receptors

124
Q

Ion channel-linked receptors are used for:

A

Neurotransmitters

125
Q

Steroid hormone receptors are:

A

Intracellular

126
Q

GPCR’s activate which two effector proteins?

A

PLC and adenylyl cyclase

127
Q

RTK’s activate which two effector proteins?

A

PLC and PI3K

128
Q

PLC produces what 2 second messengers?

A

IP3 (triggers Ca2+) and DAG

129
Q

IP3 and DAG result in the activation of:

A

PKC

130
Q

PKB is activated by:

A

PI3K

131
Q

Activation of PKB results in cell___ and inhibition of ___

A

proliferation, apoptosis

cell survival

132
Q

Activation of RTK reveals ___ protein docking site, which binds___ and thus activates the small Gprotein ___. This then activates ___ resulting in cell proliferation/growth.

A

GRB2, SOS (GEF), Ras, MAPK

133
Q

The Ras-MAPK pathway involves:

A 
RTK activation
GRB2 docking site
Gef/SOS binding
MAPK activation
GF increase
134
Q

The JAK/STAT pathway is used for:

A

Cytokine receptors/receptors without kinase activity

135
Q

Integrin receptors lack kinase activity, so use 2 other kinases:

A

ILK (Integrin linked kinase) and FAK (Focal Adhesion Kinase)

136
Q

How does PKB inhibit apoptosis

A

PKB inhibits BAD,
BAD inhibits BCL-2,
BCL2 inhibits BAX,
BAX forms porins

137
Q

____ carries microtubules towards the + end (anterograde)

A

Kinesin

138
Q

____ carries material towards the - end (retrograde)

A

Dynesin

139
Q

Which cytoskeleton fiber is the strongest and connects adjacent cells?

A

Intermediate filaments

140
Q

Which cytoskeleton fiber if found around the inside of the cell and is responsible for support and villi?

A

Microfilaments (actin)

141
Q

Which cytoskeleton fiber is primarily responsible for movement of organelles and vesicles?

A

Microtubules

142
Q

What type of motor protein interacts with actin microfilaments?

A

Myosin

143
Q

What are the subunits that make up microtubules?

A

13 protofilaments (columns) of alpha/beta tubulin dimers

144
Q

Which tubulin subunit type contacts the - end of the filament?

A

Alpha

-bound to centrosome

145
Q

Rapid growth/shrinkage of microtubules due to GTP hydrolysis is known as:

A

Dynamic instability

146
Q

Microtubule _____ make up cilia and flagella

A

Doublets=axoneme

147
Q

9 microtubule _____ make up centrioles and basal bodies (MTOCs)

A

Triplets

148
Q

What is the scaffold for microtubule growth in the MTOCs?

A

Gamma-tubulin (binds alpha tubulin)

149
Q

A protein that stabilizes microtubules and a famous example relates to Alzheimer’s disease

A

MAPs and Tau protein

150
Q

Domains of mRNA processing in the nucleus, rich in splicing snRNPs

A

Speckles

151
Q

Tangled, coiled threads, often paired, involved in snoRNA biogenesis and trafficking as well as cytoplasmic SMN and Gemin 2

A

Cajal bodies and gems

152
Q

3 nucleolar substructures

A

Fibrillar center, dense fibrillar component and granular component

153
Q

2 pathogenic causes of Alzheimer’s disease

A

Beta-amyloid plaques and neurofibrillary tangles (hyperphosphorylation of tau)

154
Q

What gene is a major risk factor for earlier age of late onset Alzheimer’s?

A

Apo E4

155
Q

What type of microtubule pulls centeosomes apart?

A

Kinetichore microtubules

156
Q

50% or primary ciliary dyskinesia are considered:

A

Kartagener syndrome

157
Q

Kartagener syndrome symptoms include:

A

Bronchiectasis
Situs inversus
Chronic paranasal sinusitis
Infertility

158
Q

Colchicine, vincristine, and vinblastine are drugs which:

A

Bind tubulin subunits and prevent polymerization

159
Q

Paclitaxel (Taxol) works by:

A

Binding and stabilizing microtubules, blocking mitosis in cancer cells since the mitosis spindle can’t be broken down

160
Q

Epidermolysis Bullosa Simplex is an AD mutation of:

A

Keratin 5 or 14

161
Q

What intermediate filament is expressed in muscle cells? Nuclei?

A

Desmin, lamin

162
Q

What intermediate filament is expressed in glial cells?

A

GFAP

AUC Med (12 decks)

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