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Molecular & Cellular Processes of Disease > Exam 1 > Flashcards

Exam 1 Flashcards

1
Q

Levels of hierarchical organization

A

chemicals, cells, tissues, organs, organ systems, organism

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2
Q

Epithelial tissue function

A

secretes, absorbs, protects

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3
Q

Connective tissue function

A

holds it together

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4
Q

Muscle tissue function

A

contracts & moves

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5
Q

Nervous tissue function

A

communication & control

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6
Q

What animals do not make vitamin C

A

primates & guinea pigs; mutations in the gene encoding the last step in the pathway

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7
Q

Vitamin C is used for what

A

collagen synthesis by fibroblasts

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8
Q

Scurvy affects connective tissue, which means clinical signs are noted where

A

skin, mucous membranes, & blood vessels

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9
Q

Cholesterol is important for what

A

membranes & a precursor to steroid hormones & bile acids

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10
Q

Cells acquire cholesterol by what

A

endocytosis of circulating LDLs

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11
Q

Cholesterol is water insoluble & needs to be transported out the lysosome by

A

protein machines (NPCs)

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12
Q

With a NPC mutation, what happens to cholesterol

A

its unable to be removed from the lysosome

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13
Q

Neurological effects from NPC disease due to the toxic accumulation of cholesterol

A

clumsiness, learning disabilities, & loss of body control (ataxia); premature death

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14
Q

Parasites avoid the spleen by sticking to what

A

vascular endothelium

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15
Q

Effects of malaria on the body

A

microvasculature blockage, endothelial activation, organ failure, & cerebral malaria

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16
Q

Medical genetics definition

A

study of genetic info based on inherited disease

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17
Q

Commodity species are selected for what

A

production traits

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18
Q

Companion species are selected for what

A

health & performance

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19
Q

Define genomics

A

field of studying function & nature of whole genomes/ associated sequence databases

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20
Q

Polymorphism definition

A

change in DNA sequence relative to a consensus sequence for a species or population

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21
Q

Is polymorphism synonymous to mutation

A

yes, but mutation implies some lost or changed function

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22
Q

Nature of polymorphisms

A

single nucleotide changes; large deletions or insertions; other complex changes

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23
Q

Causes of polymorphisms

A

DNA repair failure; chemical mutagenesis; ionizing radiation; transposable & retro-transposable elements

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24
Q

Different consequences of polymorphisms

A

none; gain of function; loss of function; attenuated function

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25
Q

Describe gain of function

A

mutations that changes gene function in a pathological way

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26
Q

Describe loss of function

A

null defects; usually an absent or totally non-functional protein; critical “site sensitive” mutations (ex: AAs in an enzyme active site; obliteration of a critical signaling sequence)

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27
Q

Describe attenuated function

A

may confer a trait; may be associated w/ significant disease that is attenuated compared to the more severe (null) form; intermediate function

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28
Q

Coefficient inbreeding equal to 0 means

A

no in-breeding

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29
Q

Coefficient inbreeding equal to 1 means

A

completely in-bred (like mice in a lab)

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30
Q

Founder effect definition

A

rate of disease increases in a new population just by chance

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31
Q

Popular sire & dam effect

A

same dogs being bred may cause genetic defects in breeds

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32
Q

Most common genetic issues seen in vet med

A

involves recessive genes since dominant mutations would not be incorporated into breeding programs

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33
Q

Complex inheritance of genes includes what

A

polygenic; multifactorial; epigenetic; combined effects

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34
Q

Multifactorial includes

A

environmental & genetic interaction

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35
Q

Epigenetic definitions

A

non-sequence associated inheritance

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36
Q

Examples of epigenetic

A

DNA methylation that activates/ inactivates gene expression

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37
Q

Levels of defects (mutations)

A

developmental; subcellular; direct cell/ cell interactions; soluble ligand defects

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38
Q

Type of developmental defect

A

cell migration

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39
Q

Subcellular defect

A

organellar; cytoskeleton; signaling defect; plasma membrane associated defects (receptors; cytoskeleton/ extracellular matrix interface)

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40
Q

Chromatin is what

A

DNA + histones

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41
Q

Packing & level of expression of heterochromatin vs euchromatin

A

Heterochromatin is more tightly packed & less actively expressed

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42
Q

What passes through nuclear pores

A

Small molecules-> diffuse freely

Large macromolecules-> transport regulated

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43
Q

What is the nuclear lamina

A

nuclear cytoskeleton (scaffolding)

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44
Q

What species have nuclei in RBCs

A

birds, reptiles, & fish

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45
Q

Nucleated RBCs in mammals can be a sign of what

A

infection

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46
Q

Nucleolus are one or more dense compartments w/in the nucleus that are the site of

A

ribosomal RNA transciption & assembly of ribosomal proteins

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47
Q

Describe cause of primary lens luxation

A

splicing mutation causes early termination during translation; protein important for maintenance of fibers is not correctly made; breakdown of fibers that holds lens in place

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48
Q

Point mutation in what gene causes primary lens luxation in dogs

A

ADAMTS17; dysfunctional protease results

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49
Q

Proteases play important roles in what

A

development & maintenance of extraceullar matrix

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50
Q

Dysfunctional protease ADAMTS17 results in what

A

failure to maintain fibers that hold the lens in place

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51
Q

Ribosomes are called what

A

translation machines

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52
Q

Synonymous mutation results in

A

same AA being added

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53
Q

Non-synonymous mutation results in

A

incorrect AA being added

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54
Q

Single base-pair deletion results in

A

frameshift mutation- catastrophic

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55
Q

Lens luxation genetic background

A

autosomal recessive; does not appear until 3 years of age

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56
Q

Primary lens luxation frameshift mutation occurs how

A

G to A mutation in intron of ADAMTS17 gene causes a splcing error that results in skipping exon 10

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57
Q

Subunit for prokaryotic ribosome

A

70S = 50S + 30S

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58
Q

Subunit for eukaryotic ribosome

A

80S = 60S + 40S

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59
Q

Many antibiotics are used to inhibit protein synthesis b/c

A

prokaryotic ribosomes are sensitive & eukaryotic ribosome are insensitive

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60
Q

Components of the small subunit

A

protein; 16S rRNA

61
Q

Components of the large subunit

A

protein; 23S rRNA; 5S rRNA

62
Q

Ribosome is mostly made up of

A

RNA

63
Q

Where are ribosomes assembled

A

nucleolus

64
Q

Where are ribosomal proteins made

A

cytoplasm

65
Q

How are ribosomes transported out of the nucleus

A

via nuclear pores

66
Q

Where are ribosomes assembled w/ rRNA

A

in nucleolus, then exported to cytoplasm

67
Q

What occurs if the assembly of ribosomes is interrupted

A

nucleolar stress-> cell death

68
Q

Ribosomal protein haploinsufficiency occurs when

A

mutation in one allele of a ribosomal protein leading to half as much of that subunit

69
Q

Depletion of one subunit causes what

A

excess in other subunits

70
Q

When the assembly of ribosomes is disrupted & nucleolar stress occurs, what does this mean

A

proteins leak out

71
Q

Excess ribosomal subunits activate what

A

p53 signaling

72
Q

p53 is responsible for what

A

cell cycle arrest and/or apoptotic cell death

73
Q

Disease ex that results from ribosome dysfunction

A

Diamond Blackfan Anemia

74
Q

Describe Diamond Blackfan Anemia

A

mutation in ribosomal subunit protein; fewer erythroid progenitors; production of RBCs impaired; severe anemia

75
Q

Why is it believed that some organelles arose from endosymbiosis

A

organelle genome & double membrane

76
Q

The mitochondrial genome encodes for

A

tRNAs & mRNAs for translation of mitochondrial genome; proteins for oxidative phosphorylation

77
Q

Functions of mitochondria

A

energetic roles; metabolic synthesis roles (nucleotides, lipids, heme); signaling roles

78
Q

Mitochondria are key regulators of programmed cell death & enact this response by

A

leakage of cytochrome-C that trigger apoptosis

79
Q

Known genetic abnormalities of mitochondria are most often evident where

A

high energy tissues-> CNS, muscle, visual, auditory

80
Q

Causes of mitochondria diseases

A

nuclear or mtDNA mutations

81
Q

Mitochondria DNA genetic disorders are acquired how

A

maternally inherited

82
Q

Sperm mitochondria is used for what

A

propellant

83
Q

Heteroplasmy refers to what

A

variation in mutant mitochondrial load depending on how many mitochondria are in the particular oocyte

84
Q

Causes of Sensory Ataxic Neuropathy in Golden Retrievers

A

mutation in mitochondrial gene & impaired mitochondrial function in all tissues

85
Q

Signs of Sensory Ataxic Neuropathy in Golden Retrievers

A

mild to moderate pathology; wobbly gait; postural deficits; diminished spinal reflexes

86
Q

Mutation that causes Sensory Ataxic Neuropathy

A

(triangle)T5304 in the Tyrosine tRNA gene which results in low levels of Tyrosine tRNA & inhibits translation of mitochondrial genes

87
Q

Parasites may have a non-photosynthetic plastid that is essential for

A

parasite metabolism

88
Q

Plastids have their own what

A

ribosome (prokaryotic in nature)

89
Q

Certain drugs (like clindamycin) can do what

A

inhibit the prokaryotic plastid ribosome

90
Q

Function of cytoskeleton

A

gives cells shape; network of protein tubes & filaments

91
Q

Smallest of the three tubes/ filaments discussed

A

microfilaments

92
Q

Largest of the three tubes/ filaments discussed

A

microtubules

93
Q

Structure of microfilaments

A

double helix of polymerized actin

94
Q

Properties of microfilaments (flexible? directional?)

A

semi-flexible & directional

95
Q

Roles of microfilaments

A

structure, adhesion, movement, & cell division

96
Q

Structure of intermediate filaments

A

woven “rope-like” bundle of keratin, vitamins, etc

97
Q

Properties of intermediate filaments (flexible? directional?)

A

in b/w semi-flexible/ rigid & non-directional

98
Q

Roles of intermediate filaments

A

tension bearing, mechanical stability, & cell/ECM or cell/cell adhesion

99
Q

Structure of microtubules

A

hollow cylinder of polymerized alpha-beta tubulin dimers

100
Q

Properties of microtubules (flexible? directional?)

A

rigid & directional

101
Q

Roles of microtubules

A

cell division, intracellular transport, & flagella/ cilia

102
Q

Actin is made of what

A

globular subunits that polymerize into filaments

103
Q

How is actin involved in cell division

A

cleavage furrow

104
Q

Microfilaments are used to support & shape what

A

plasma membrane at cell periphery

105
Q

Microfilaments are involved in adhesion of what

A

cytoskeleton to ECM

106
Q

How are microfilaments involved w/ movement

A

actin polymerization of myosin motor proteins

107
Q

Different directional arrangements of microtubules

A

gel-like network; tight parallel bundle; contractile bunde; dendritic network

108
Q

Describe actin treadmilling

A

constant flux-> polymerization/ depolymerization

simultaneous gain & loss of monomers-> filament stays the same length

109
Q

Describe dynamic instability of microtubules

A

constantly polymerizing/ depolymerizing

rapid alteration necessary for support of dynamic cellular processes

110
Q

Proteins ex of intermediate filaments

A

keratin, laminins, & desmins

111
Q

What are intermediate filaments specific to

A

cell-specific

112
Q

Cause of Epidermolytic Hyperkeratosis

A

splice mutation in keratin 10 gene; results in a frameshift mutation & truncated protein

113
Q

Symptoms of Epidermolytic Hyperkeratosis

A

causes skin to be fragile & prone to blister; increases pigmentation

114
Q

Laminin does what

A

supports nuclear envelope

115
Q

Dystrophin does what

A

scaffolding protein that links actin to ECM of muscle cells

116
Q

Cause of muscular dystrophy

A

exon 50 deletion leading to a frameshift/ truncated protein

117
Q

Genetic basis of muscular dystrophy

A

X-linked recessive

118
Q

In the experiment discussed, how was the Cas9 & guide RNA transported to muscle cells

A

adeno-associated virus

119
Q

Outcomes of study

A

1) repair of double strand break in dystophin exon 51 restores reading frame
2) single nucleotide addition resulted in some incorrect nucleotides in exon 51, but then correct reading frame
3) double deletion upstream lost exon 51, but restores reading frame

120
Q

Gated trafficking route

A

cytosol to nucleus

121
Q

Transmembrane trafficking route

A

from cytosol to mitochondria or ER

122
Q

Vesicular trafficking route

A

from ER to golgi to late endosome/ lysosome/ early endosome/ secretory vesicles/ cell exterior

123
Q

What proteins are inserted into the ER through a membrane translocon

A

those w/ a signal peptide

124
Q

What proteins are released into the ER membrane

A

those w/ a transmembrane domain

125
Q

How is cargo transported b/w compartments

A

in vesicle packages that bud & fuse from membranes

126
Q

Protein folding is assisted by

A

ER chaperones

127
Q

Proteins are transported to the golgi for

A

modification & sorting

128
Q

What proteins stay in the ER

A

those w/ retention signals

129
Q

What proteins leave the ER

A

those w/ exit signals

130
Q

Condition for proteins to be able to leave the ER

A

must be folded correctly

131
Q

Cause of Cystic Fibrosis

A

(triangle)F508 in chloride channel results in a minor defect in folding that prevents proteins from leaving ER

132
Q

Does the chlorine channel still function is Cystic Fibrosis

A

yes, but it cannot reach the plasma membrane

133
Q

Symptom of Cystic Fibrosis

A

thick mucus in lungs

134
Q

What mediates vesicle formation

A

coat proteins

135
Q

How do coat proteins form vesicles

A

recruit cargo via receptors & bend membranes to form vesicles

136
Q

What guides vesicles to target membranes

A

rab proteins

137
Q

What enables fusion of vesicles

A

SNARE proteins

138
Q

Target for transport from golgi to lysosome

A

hydrolytic enzymes

139
Q

Signals needed for hydrolytic enzymes

A

mannose 6-phosphate & decreased pH

140
Q

Describe constitutive exocytosis

A

involves newly synthesized soluble proteins for secretion & newly synthesized plasma membrane fusion

141
Q

Is constitutive exocytosis regulated

A

no, unregulated membrane fusion

142
Q

Describe regulated exocytosis

A

involves secretory vesicle(molecuole) w/ secretory proteins

143
Q

How is regulated exocytosis controlled

A

by hormones or neurotransmitters

144
Q

Describe receptor-mediated endocytosis

A

involves uptake of specific macromolecules from extracellular millieu; receptors recycled to cell surface

145
Q

Describe phagocytosis, a type of endocytosis

A

uptake of large particles; ex: macrophages, neutrophils, & dendritic cells

146
Q

Cause of disease from Botulinum toxin

A

SNAREs are cleaved at neuromuscular junction, which prevents release of acetylcholine

147
Q

Symptom of Botulinum toxin

A

flaccid paralysis

148
Q

Exercise Induced Collapse occurs most often in what breed

A

labs

149
Q

Cause of Exercise Induced Collapse

A

mutation in gene for dynamin-1; vesicle recycling can’t keep up / periods of high activity; synaptic tranmission cannot be sustained

Molecular & Cellular Processes of Disease (2 decks)

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