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Neuroscience > Neurodegenerative diseases > Flashcards

Neurodegenerative diseases Flashcards

1
Q

Some neurodegenerative diseases are associated with the degeneration of a particular __ ____, while others cause more widespread degeneration.

A

Cell type

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2
Q

Neuronal degeneration is driven by cellular _____,

A

Apoptosis

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3
Q

Apoptosis is triggered when _____

A

Clumps of misfolded proteins disrupt normal cellular function.

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4
Q

At high enough _______, all proteins have a risk of clumping together.

A

Concentrations

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5
Q

Evolution has favored proteins that are _____ to clumping.

A

Resistant

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6
Q

What are the 2 steps to correct proteins ?

A
  1. Protein that is resistant to clumping.
  2. Protein that folds into a correct 3D shape.
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7
Q

True or false : Cells have numerous ways of destroying misfolded protein

A

True

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8
Q

Cells have a hard time getting rid of ____ of ____ proteins

A

Aggregates of misfolded proteins

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9
Q

Reason misfolded proteins are difficult to break apart by enzymes

A

They are dense and hard to access for enzymes

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10
Q

Transmissible spongiform encephalopathy

A

Contagious disease that causes widespread neurodegeneration , making the brain look like a sponge.

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11
Q

2 names for Transmissible spongiform encephalopathy

A

Mad cow and Creutzfeldt-Jacob disease

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12
Q

Accumulation of this type of misfolded protein is responsible for transmissible spongiform encephalopathies.

A

Prion

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13
Q

Prion

A

Misfolded proteins that can cause other copies of the same protein to misfold, which spreads the problem throughout the brain.

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14
Q

Number of prion proteins needed to start a chain reaction

A

1

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15
Q

_rion protein diseases spread from cell to cell and animal to animal by means of contact with a ____

A

Misfolded prion protein

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16
Q

Death from prion protein disease usually occurs within ____

A

a year

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17
Q

Only infectious agent that is a protein (does not contain DNA or RNA)

A

Prion protein

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18
Q

Huntington’s disease

A

Neurodegenerative disease with a very clear genetic basis. It affects 1 in 10,000 people and runs in families.

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19
Q

Cause of Huntington’s

A

A mutation in the Huntingtin gene, which results in misfolding (long version that starts clumping to other proteins) of the huntingtin protein.

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20
Q

Is the Huntingtin gene mutation dominant or recessive ?

A

Dominant (one bad copy of the gene).

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21
Q

Part of the brain in which Huntingtin protein is highly expressed

A

Basal ganglia.

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22
Q

Aggragation of this protein cause parts of the basal ganglia to degenerate

A

Huntingtin protein

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23
Q

When do symptoms of Huntington’s start and cause death ?

A

Symptoms usually begin between 30 and 50 years of age. Death follows 15-20 years later

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24
Q

4 steps of Huntington’s symptoms progression

A
  1. Increasingly severe lack of coordination
  2. uncontrollable jerky limb movements
  3. dementia
  4. death.
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25
Q

True or false : movements in Huntington’s disease may seem voluntary but they are unconscious

A

True

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26
Q

The input nucleus of the basal ganglia that regulates movement receives input from ____ neurons.

A

Dopamine

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27
Q

We each have _ copies of each gene.

A

2

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28
Q

The Huntington gene has a section with more than 39 CAG repeats so the protein is a long version with more than 39 ____ acids in a row.

A

Glutamine

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29
Q

An enzyme tries to cut the amino acid up, but it leaves a ____ (the section with too many glutamine repeats) that is very prone to clumping. It will disrupt cell function.

A

Fragment

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30
Q

Death depends on the ___ of glutamine repeats.

A

Number (more than 39 means you will die from the disease).

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31
Q

A long repeat of the same nucleic acid over and over can be increased because of this.

A

When a cell is dividing, DNA copying machine can fall off and jump back at the wrong place

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32
Q

A possible treatment for protein malformation could be to get the ____ system better at fighting misfolded proteins clumps

A

Immune

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33
Q

Where is antisense DNA (RNA) inserted into in antisense therapy ?

A

The spinal cord

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34
Q

Antisense DNA complements ____

A

mRNA

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35
Q

When antisense DNA an mRNA bind together, the mRNA does not get translated into a ____.

A

Protein

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36
Q

Antisense therapy would allow the ____ protein not to get made in Huntington disease

A

Long

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37
Q

Antisense therapy alters ____ expression

A

Gene

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38
Q

Parkinson’s disease

A

Degenerative “movement” disorder, without an obvious genetic basis (in most instances)

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39
Q

Parkinson’s results from the degeneration of dopamine neurons in the midbrain, specifically in the ____ _____.

A

Substancia nigra

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40
Q

Parkinson’s disease is very _____, affecting 1% of the population.

A

Common

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41
Q

Symptoms of Parkinson usually appear after the age of ___.

A

60

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42
Q

Reduced dopamine signaling in the basal ganglia leads to …

A

Muscle rigidity, slowness of movement, shaking, difficulty walking, and eventually dementia and death.

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43
Q

3 types of possible disturbances in Parkinson (other than motor)

A

Cognitive, emotional, and sleep disturbances

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44
Q

For how long can people with Parkinson live ?

A

15 years

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45
Q

Alpha-synuclein is a ____

A

Protein

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46
Q

Where is Alpha-synuclein most expressed ?

A

Midbrain dopamine neurons

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47
Q

Abnormal accumulations of this protein are associated with dopamine neuron degeneration in Parkinson’s disease.

A

Alpha-synuclein

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48
Q

Lewy body

A

Aggregate of misfolded alpha-synuclein protein

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49
Q

Where do we find lewy bodies ?

A

In the cytoplasm of midbrain dopamine neurons in people with Parkinson’s disease

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50
Q

Rare mutations in the ___ gene have been identified that promote the formation of Lewy bodies.

A

Alpha-synuclein gene

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51
Q

Protein that is added to faulty/old/ misfolded proteins, which targets them for degradation.

A

Ubiquitin

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52
Q

Ubiquitinated proteins get brought to ______, which breaks them into their constituent amino acids for recycling.

A

Proteasomes

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53
Q

Protein that plays a critical role in ubiquitination.

A

Parkin

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54
Q

_____ parkin is one cause of familial Parkinson’s disease.

A

Mutated

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55
Q

Proteasome

A

Organelle responsible for destroying ubiquitinated proteins within a cell.

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56
Q

_____ neurons are especially sensitive to loss of parkin function and alpha-synuclein aggregation.

A

Dopamine

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57
Q

If there is a gene mutation in the alpha synuclein protein, the parkin enzyme cannot ____ misfolded alpha-synuclein protein, which will lead to an early onset Parkinson disease.

A

ubiquitinate

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58
Q

Toxic gain of function

A

When a dominant gene mutation produces a protein with toxic effects.

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59
Q

2 examples of toxic gain function

A
  1. Alpha-synuclein gene mutation
  2. Mutation in Huntington gene
60
Q

Loss of function

A

A recessive gene mutation that when present on both chromosomes results in the absence of a necessary protein.

61
Q

Example of loss of function

A

Mutations in the parkin gene

62
Q

_% of people die from Parkinson

A

5

63
Q

__% of dopamine neurons need to die for symptoms to get bad.

A

50

64
Q

When Parkinson symptoms worsen, we need to increase ____ dose

A

L-Dopa

65
Q

After _ years, L-dopa is hard to dose

A

5

66
Q

Too much L-dopa can cause too much ____

A

Movement

67
Q

Elevating _____ signaling in the brain alleviates the motor symptoms of Parkinson’s Disease (for many years).

A

Dopamine

68
Q

Dopamine receptor ____agonists/antagonists work to some extent, but they cause many side effects

A

Agonists

69
Q

Does Dopamine cross the blood-brain barrier ?

A

No

70
Q

Precursor of dopamine that does cross the blood-brain barrier

A

L-dopa

71
Q

Daily administration of L-dopa can diminish the motor symptoms of Parkinson for many ___.

A

Years

72
Q

Brain ____ and deep brain stimulation (DBS) can also treat Parkinson

A

Lesions

73
Q

Main targets for lesions and DBS in Parkinson treatment (parts of the basal ganglia that become overactive)

A

Globus pallidus and subthalamic nucleus.

74
Q

Damaging the globus pallidus or disrupting subthalamic nucleus activity removes one of the brakes on ____ behaviour.

A

Motor

75
Q

The entire _____ cortex sends axons into the basal ganglia.

A

Cerebral

76
Q

The nucleus that receives movements instructions

A

The caudate nucleus

77
Q

When dopamine neurons die off, the subthalamic nucleus and the globus pallidus internal segments become too _____ inactive/active

A

Active

78
Q

When dopamine arrives, it tells the subthalamic nucleus and the globus pallidus internal segments to ____stat/stop inhibiting.

A

Stop

79
Q

Putting a metal wire in the brain and delivering stimulations in the subthalamic nucleus “breaks” it : neurons go into ______polarization/depolarization block.

A

Depolarization

80
Q

When dopamine stops the subthalamic nucleus and the globus pallidus internal segment from inhibiting, movement is ___initiated/stopped

A

Innitiated

81
Q

We often implant a battery in the chest to provide continuous energy to always stimulate the ____ nucleus.

A

Subthalamic

82
Q

Dementia

A

Progressive impairments to memory, thinking, and behavior due to a neurological disorder that affect one’s ability to perform everyday activities

83
Q

Characteristic of all degenerative diseases.

A

Dementia

84
Q

Common causes of dementia

A

Neurodegenerative disease, MS, multiple strokes, and repeated brain trauma.

85
Q

Alzheimer’s disease

A

Neurodegenerative disorder that causes progressive memory loss, motor deficits, and eventually death.

86
Q

Aggregates of this misfolded protein is present in the brains of people with Alzheimer’s disease

A

β-amyloid protein

87
Q

Amyloid plaque

A

Extracellular aggregation of β amyloid protein surrounded by glial cells and degenerating neurons

88
Q

Tau protein

A

Microtubule protein that becomes hyper-phosphorylated in Alzheimer’s disease, disrupting intracellular transport.

89
Q

Intracellular accumulation of twisted Tau protein in dying neurons.

A

Neurofibrillary tangle

90
Q

β-amyloid precursor protein (APP)

A

Protein that is the precursor for β-amyloid protein. The gene for this protein is located on chromosome 21, which is the one duplicated (triplicated) in down syndrome. It sits in the membrane.

91
Q

Secretase

A

Class of enzymes that cut the β-amyloid precursor protein into smaller fragments, including β-amyloid

92
Q

Presenilin

A

Protein that forms part of the secretases that cut APP. Mutations in presenilin can cause it to preferentially generate the abnormal long form of β-amyloid, which causes early onset Alzheimer’s disease.

93
Q

Apolipoprotein E (ApoE)

A

Glycoprotein that transports cholesterol in the blood and plays a role in cellular repair. Presence of the E4 allele of the ApoE gene increases risk of late-onset Alzheimer’s disease

94
Q

The ____ cut the β-amyloid protein in 3 fragments.

A

Secretase enzymes (2)

95
Q

How do the secretase miscut the β-amyloid protein in Alzheimer ?

A

Some cut it in the wrong spot : 42 amino acids long instead of 40. This long segment is sticky and clumps

96
Q

People with down syndrome have a higher risk of Alzheimer because…

A

The gene for the precursor β-amyloid protein (APP) is on the chromosome 21.

97
Q

Mutations in the β-amyloid (Aβ) protein due to ____ enzymes; ____or _____ can cause Alzheimer.

A

Secretase enzymes; presenilin or Apolipoprotein E (ApoE)

98
Q

Other than age, the strongest risk factor for Alzheimer’s disease is…

A

Traumatic brain injury.

99
Q

Other risk factors of Alzheimer include…

A

obesity, hypertension, diabetes, and high cholesterol levels

100
Q

Why does high cholesterol make you more likely to develop Alzheimer’s ?

A

A lot of the cell membrane is cholesterol, and at a certain concentration of cholesterol it seems the secretase enzymes are more likely to make the wrong cut.

101
Q

In Alzheimer immunotherapy, we inject antibodies that directly bind to misfolded ____ or ____ protein, marking them for destruction by the immune system.

A

Aβ protein or Tau protein

102
Q

Amyotrophic lateral sclerosis (ALS) – also known as Lou Gehrig’s Disease and motor neuron disease is a type of _____

A

Neurodegenerative disorder

103
Q

ALS attacks motor neurons in both the spinal cord and ____ nerves.

A

Cranial

104
Q

In ALS, proteins aggregates in the ____ neurons will cause them to die off.

A

Motor

105
Q

Symptoms of ALS

A

Spasticity (increased muscle tension causing stiff, awkward movements), exaggerated stretch reflexes, progressive weakness and muscular atrophy, followed by paralysis and then death.

106
Q

90% of ALS cases are _____ (unknown cause)

A

Sporadic

107
Q

ALS disease typically starts after the age of ___.

A

50

108
Q

Life span with ALS

A

Life span following a diagnosis is typically 2-4 years, but some people live much longer. For example, Stephan Hawking lived with the disease for over 50 years.

109
Q

Common disease spectrum (FTD–ALS)

A

Includes ALS and frontotemporal dementia (FTD - another neurodegenerative disorder) in which proteins misfold and spread because of genetic, clinical, and pathological similarities.

110
Q

Prion disease (transmissable), Huntington’s disease (genetic), and ALS-FTD are somewhat ____common/rare.

A

Rare

111
Q

Parkinson’s and Alzheimer’s are ____common/rare especially with age.

A

Common

112
Q

There are common gene _____ in the human population that increase people’s risk of getting a specific disorder.

A

Variants

113
Q

Rare gene mutations usually will be selected ___in/out.

A

Out

114
Q

Once __% of people have a gene mutation, it is spreading in the human gene pool.

A

1

115
Q

About 4% of the population has a severe mental illness, and the fertility rate for this group is about ____ the national average.

A

Half

116
Q

Gene variants that increase your risk of developing a severe physical or mental health issue should get _____ from the gene pool across generations.

A

Removed

117
Q

Gene mutations arise with each _____.

A

Generation

118
Q

2 types of gene mutations

A
  1. Different versions of a gene (ex. different versions of an ion channel protein)
  2. Different versions of a gene promoter region (changes who and what cell type expresses something).
119
Q

When do we say there are multiple alleles (multiple versions) of a gene ?

A

When there is gene mutation (both types)

120
Q

If more than 1% of the population has a specific allele (a specific gene variant), this allele is unlikely to be…

A

Either uniformly beneficial or detrimental to reproductive success

121
Q

Natural selection eliminates _____ genes from the gene pool over time.

A

Harmful

122
Q

Very harmful gene mutations get quickly eliminated because…

A

They greatly reduce reproductive success.

123
Q

very harmful gene mutations tend to be rare and ____ in origin.

A

Recent ( arise anew with each generation but quickly get selected out.)

124
Q

Slightly harmful gene mutations get eliminated more slowly and tend to be inherited across ____ generations (e.g., from great grandparents).

A

Multiple

125
Q

How harmful are common and old gene mutations ?

A

Slightly harmful

126
Q

Gene mutations that slightly reduce reproductive success (say by 1%) would only persist in the human gene pool for a ____ before being selected out.

A

a hundred generations or so (a few thousand years)

127
Q

As harmful alleles get eliminated, the prevalence of ______ alleles increases until everyone gets them.

A

Beneficial

128
Q

We say a gene has gone to fixation when the same version is found in (nearly) __% of the population.

A

100

129
Q

f an allele slightly _____ reproductive success (say by 1%), it should spread to the entire population within 100 generations or so

A

Increases

130
Q

When humans spread into different environmental niches over the last 50,000 years, they experienced rapid changes in…

A

Skin color, facial characteristics, body shapes, and hair types, among other things

131
Q

Genes mutations from 50,000 years ago spread to everyone and went to fixation (within isolated populations) within ____ years or so.

A

5000

132
Q

In general, most genes in the human genome have gone to fixation because they promoted _____and _______ in ancestral conditions better than other gene variants did.

A

Survival and reproduction

133
Q

_____ encoding regions have mostly gone to fixation

A

Protein

134
Q

____ genes comprise the species-typical human genome, and its normal neurodevelopmental product is human nature

A

Fixated

135
Q

A variety of alleles are quite ____common/rare

A

Common

136
Q

Some alleles confer an increased ____ of developing a disease or disorder, while other alleles are protective.

A

Risk

137
Q

Evolutionary pressure acting on genes

A

A hundred generations from now, if our environment and lifestyle remain unchanged, the good genes will go to fixation as bad genes get selected out.

138
Q

How did problematic genes persist over the last 200,000 years (10,000 generations) of human history?

A

Our environment and lifestyles have changed very quickly in recent history.

139
Q

When the environment is stable for hundreds of generations, the only alleles that are maintained are the ones that are beneficial or completely ___ (in that environment).

A

Neutral

140
Q

The prevalence of neutral alleles drifts ____ across generations

A

Randomly

141
Q

Many alleles that were neutral or beneficial 50 generations ago are no longer so. They are now _____

A

Harmful

142
Q

When an allele is neutral in one environment but not another, we say there is a ___- ____interaction.

A

Gene-environment

143
Q

Disorders associated to environmental factors

A

Obesity/diabetes, asthma, drug addiction, heart disease/stroke/cancer, late onset neurodegenerative diseases, depression/anxiety

144
Q

Do prevalence rates of schizophrenia and autism vary across cultures or recent history ?

A

No

145
Q

Severe mental illnesses are mostly ____ and very ____

A

Heritable and common

Neuroscience (12 decks)

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