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Psyc 211 > Lecture 20 - Neurological Diseases > Flashcards

Lecture 20 - Neurological Diseases Flashcards

1
Q

What is Down’s syndrome?

A

Caused by inheritance of a faulty gene but by possession of extra twenty-first chromosome
- it is congenital, which does not necessarily mean hereditary. —> disorder that one I born with.
- Characterized by moderate to severe intellectual disability and often physical abnormalities
- After age 30, the brain of a person with Down syndrome begins to degenerate in a manner similar to Alzheimer’s disease,

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2
Q

Explain what multiple sclerosis is.

A

Autoimmune demyelination’s disease.
- Usually occurs in late twenties or thirties.
- Generally a sporadic disease —> not obviously caused by an inherited gene mutation or infectious agent.

  • At scattered locations in central nervous system, myelin sheaths are attacked by one’s own immune system, leaving behind hard patched of debris called sclerotic plaques.
  • Neural messages transmission damaged.
  • Wide variety of neurological disorders is seen.
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3
Q

What is the remitting-relapsing MS?

A

It is a pattern seen in multiple sclerosis disease where the symptoms of multiple sclerosis go through cycles where they flare up and then decrease after varying periods of time.
- Usually followed by progressive MS

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4
Q

Which drugs seem to help in the treatment of multiple sclerosis?

A
  • Interferon ß —> protein that modulates immune system activity
  • Glatiramer acetate —> peptides that mimic myelin —> body sees these as myelin and they attack them instead of the real myelin. Acts as a decoy.
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5
Q

Degeneration is typically the result of what?

A

It is typically the result of apoptosis, which is triggered by collections of misfolded proteins that disrupt normal cellular function.

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6
Q

What triggers apoptosis?

A

The collections of misfolded proteins that disrupt normal cellular functions

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7
Q

What is a prion?

A

Misfolded proteins with the ability to transmit their misfolded shape onto normal variants of the same protein.

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8
Q

What is the Transmissible spongiform encephalopathy?

A

It’s a contagious brain disease (includes mad cow and Creutzfeldt-Jacob disease) whose degenerative process gives the brain a sponge-like appearance.

  • Caused by accumulation of misfolded prion protein.
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9
Q

How do prion protein diseases spread?

A

A misfolded prion protein interacts with correctly folded prion proteins. It will cause them to misfolded as well.

  • Spreads from cell to cell and animal and animal by means of contact.
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10
Q

What is Huntington’s disease?

A
  • It is caused by one dominant mutation in the Hungtingtin gene.
  • Over time, aggregates of hungtingtin protein from in the basal ganglia, causing neurodegeneration.
  • Symptoms being between 30 and 50 years of age —> death about 15/20 years later.
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11
Q

What are the symptoms of Hungtington’s disease?

A
  • Increasingly severe lack of coordination
  • Uncontrollable jerky limb movements
  • Dementia followed by death
  • Movements look like fragments of purposeful movements, but occur involuntarily
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12
Q

How many glutamines does a healthy person have in each Hungtingtin proteins usually?

A

Less than 35

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13
Q

How many glutamines do people with Hungtinton’s disease have in hungtintin proteins?

A

39 and more

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14
Q

Where is the Hungtintin protein heavily expressed?

A

in the input nuclei of the basal ganglia

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15
Q

What is Antisense therapy?

A

Therapy approach tried to cure Hungtinton’s disease.
- It consists of flooding the brain of the patient with antisense DNA through the spinal cord in the hopes of stopping the production of Hungtintin protein.

It was promising in the animal studies, but the therapies stopped a little while ago because people were not getting better and were getting inflammation in the brain, which was worrisome.

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16
Q

What is Parkinson’s disease?

A

Degenerative movement disorder
- Associated with degeneration of dopamine neurons in the midbrain, specifically in the substantia nigra.
- Usually appears after 60.
- Characterized by shaking, muscular rigidity, slowness of movement, difficulty walking, and eventually dementia.

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17
Q

What neurons are associated with Parkinson’s disease?

A

Dopamine neurons

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18
Q

Which part of the brain is affected in Parkinson’s disease?

A

The midbrain —> substantia nigra

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19
Q

What are the symptoms of Parkinson’s disease?

A
  • Shaking
  • Muscular rigidity
  • Slowness of movement
  • Difficulty walking
  • Dementia
  • Cognitive, emotional and sleep disturbances
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20
Q

What is the cause of Parkinson’s disease?

A

The aggregation of the protein alpha-synuclein, which creates the death of midbrain dopamine neurons

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21
Q

What does reduced dopamine signalling in the basal ganglia cause?

A

It disrupts movement.

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22
Q

What is the alpha-synuclein protein?

A

Protein heavily expressed in midbrain dopamine neurons.
Functions unclear
- Abnormal accumulations associated with dopamine neuron degenerative in Parkinson’s disease.

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23
Q

What is Lewy body?

A

It is the clump of misfolded alpha-synuclein protein found in the cytoplasm of the midbrain dopamine neurons in people with Parkinson’s disease.

24
Q

What is Parkin protein in Parkinson’s disease?

A

Protein that plays a critical role ubiquitination.

A mutated Parkin is a cause of familial Parkinson’s disease.

  • If Parkin is defective, misfolded proteins accumulate, aggregate and eventually kill the cell.
25
Q

What is the ubiquitin protein in Parkinson’s disease?

A

Protein that is put on faulty, old misfolded proteins, which targets them for degradation.
- Ubiquinated proteins get brought to proteasomes, which breaks them into their constituent amino acids.

26
Q

What are proteasomes in regards to Parkinson’s disease?

A

It is the organelle responsible for destroying ubiquinated proteins (proteins identified as misfolded proteins that need to be destroyed) within a cell.

27
Q

Is Parkin a dominant or a
Recessive gene?

A

It is a recessive, so you need both genes to get it, which causes early on Parkinson’s disease.

28
Q

What is toxic gain of function?

A

It’s a genetic disorder caused by a dominant gene mutation that produces a protein with toxic effects (ex: hungtintin)

29
Q

What is the loss of function?

A

A genetic disorder caused by a recessive gene mutation that fails to produce a protein that is necessary to avoid problems (ex: loss of or mutations in the Parkin gene can cause misfolded alpha-syclein protein to not be degraded)

30
Q

What are the possible treatments to Parkinson’s disease?

A

L-dopa can enter the brain where it is readily converted to dopamine. L-dopa treatments diminish the motor symptoms of PD. (Has to be increased over time)

  • Brain lesions and deep brain stimulation devices are common treatments. It calms down the overactive parts of the basal ganglia —> globus pallidus and subthalamic nucleus.
31
Q

What is deep brain stimulation used for in Parkinson’s disease?

A

Targets primarily the subthalamic nucleus.
- Stick a metal wire in it and electrically stimulate it to break the nucleus. It disrupts information flow and will alleviate the symptoms for a while.

32
Q

What is dementia?

A

It’s a progressive impairment to memory, thinking and behaviour that affect the ability to perform everyday activities as a result of a neurological disorder.

33
Q

What are the common causes to dementia?

A
  • Neurodegenerative diseases
  • Multiple sclerosis
  • Multiple strokes
  • Repeated brain trauma (chronic traumatic encephalopathy)
34
Q

What is Alzheimer’s disease?

A

It’s a neurodegenerative disorder that causes progressive memory loss, motor deficits and eventual death.

  • 10% population above 65 years old
  • 50% population above 85 years old

Associated with aggregates of misfolded ß-amyloid protein and severe degeneration within and around the hippocampus and neocortex.

35
Q

Where in the brain is there damage that causes Alzheimer’s disease?

A

Hippocampus and neocortex

36
Q

What is the ß-amyloid precursor protein?

A

It’s a protein that is the precursor for the ß-amyloid protein.

The gene for this protein is located on chromosome 21, which is the one duplicated in Down syndrome,

37
Q

What is a secretate in regards to Alzheimer’s disease?

A

It’s a class of enzymes that cut the ß-amyloid precursors protein in smaller fragments, including ß-amyloid.

38
Q

What is presenilin?

A

It’s a protein that forms part of the secretaries that cut APP.

39
Q

What does a mutation in presenilin cause?

A

Can cause the presenilin to preferentially generate the abnormal long form ß-amyloid, which causes early onset Alzheimer’s disease

40
Q

What is Apolipoprotein E in regards to Alzheimer’s disease?

A

It’s a glycoprotein that transports cholesterol in the body and plays a role in cellular repair.

  • The presence of the E4 allele of the apoE gene increases the risk of onset Alzheimer’s disease.
41
Q

What protein is found in excessive amounts in brains of patients with Alzheimer’s disease?

A

ß-amyloid protein

42
Q

What is this:

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

A

Amyloid plaque

43
Q

What is the Tau protein?

A

It’s a microtubule protein that becomes hyper-phosphorylated in Alzheimer’s disease.

That disrupts intracellular transport

44
Q

What does the hyper-phosphorylated Tau protein in Alzheimer’s disease create as an impact?

A

It disrupts intracellular transport.

45
Q

Name this:
- Intracellular accumulation of twisted Tau protein in dying neurons

A

Neurofibrillary tangle

46
Q

What is the second strongest risk factor for Alzheimer’s disease?

A

Traumatic brain injury

47
Q

What is the impact of lifestyle on Alzheimer’s disease?

A

It is less prevalent in well educated people, especially those that keep their minds and body highly active

Other risk factors:
- Obesity
- Hypertension
- High cholesterol levels
- Diabetes

48
Q

What is immunotherapy?

A

Most promising trial going on to try to treat Alzheimer’s disease.
- Classic vaccine to try to get immune system to attack Aß proteins or Tau proteins.
- It seems to work a little

49
Q

What is Amyotrophic lateral sclerosis (Lou GEhrig’ disease or motor neuron disease)

A

A degenerative disorder that attacks the spinal cord and cranial nerve motor neurons.
- Typically starts after 50

50
Q

What are the symptoms for ALS?

A

Spasticity (increased tension of muscles, causing stiff and awkward movements)
- Exaggerated stretch reflexes
- Progressive weakness and muscular atrophy
- Paralysis

51
Q

What is usually required to caused ALS?

A

Mutations or two or more genes

52
Q

10/20% of the cases of ALS are caused by which mutation?

A

Mutation in the gene that produces superoxide dismutase found on chromosome 21.
- Causes a toxic gain of function that leads to protein misfolding and aggregation, impaired atonal transport and mitochondrial dysfunction.

53
Q

Whic 2 diseases are now considered to be part of a common disease spectrum?

A

ALS and frontotemporal dementia.

54
Q

What is the only current pharmacological treatment for ALS?

A

Drug that reduces glutamate-induced excite toxicity, which extends life by about two to three months.

55
Q

True or false:
- Common gene variants in the human population are associated with higher risk of getting a particular late onset disorder.

A

TRUE

56
Q

Why haven’t the harmful gene variants that cause disorders associated with age been eliminated through evolution?

A
  • Gene mutations that reduce reproductive success tend to get eliminated from the gene pool fairly quickly.
  • Mutations that cause small deleterious effects are removed more slowly, so they tend to be more common and older, inherited from parents and grandparents and so forth.
  • Still mutations may only persist in the population for a 100 generations.
    Most genes in our genome have gone to fixation (never change). For these gene variants to be stable across generations, they must not confer an overall advantage or disadvantage on reproductive success.
  • It is likely that now, some genes that were neutral before are now harmful and we have just yet to catch up in evolution. (environment factors could cause these harmful diseases since back in time, they were not present).

Psyc 211 (9 decks)

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