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Jason's Neuro Block > DNA & Neuro Disorders > Flashcards

DNA & Neuro Disorders Flashcards

1
Q

2 kinds of neurodegen conditions?

A

inherited

acquired

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2
Q

subset of inherited neurodegen conditions caused by?

A

unstable repeat expansions

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3
Q

what is the most common type of repeat expansion?

A

trinucleotide

there is also tetranucleotide

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4
Q

below the threshold for number of repeat expansions?

A

stable in both sperm/egg and somatic

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5
Q

above the threshold for number of repeat expansions?

A

unstable and could become toxic

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6
Q

what is a characteristic of unstable repeat expansions?

A

dynamic mutations

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7
Q

what is it called when the expansion size increases across generations?

A

anticipation

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8
Q

anticipation of repeat expansions associated with?

A

greater severity of symptoms

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9
Q

what is a proposed mechanism for expansion?

A

slipped mispairing

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10
Q

what is anticipation in terms of unstable repeat expansions for neuro degen diseases?

A

the expansion size increases across generations

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11
Q

unstable repeat expansions are usually what kind of disorders generally?

A

neurological

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12
Q

3 kinds of unstable repeat expansion in terms of coding?

A
  1. non-coding = loss protein function
  2. non coding = novel RNA
  3. codon = novel toxic protein
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13
Q

Huntington’s mutation is where in terms of coding?

A

repeats in codon

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14
Q

Friedreich ataxia mutation happens in which coding area?

A

non-coding leads to loss of protein function

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15
Q

what do you see in late onset unstable repeat expansion?

A

loss of movement control
symptoms worsen
DNA testing

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16
Q

3 main features of Huntingtons:

A
  1. motor disorder
  2. cognitive disorder
  3. psychiatric/emo disorder
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17
Q

Huntington’s early or late onset?

A

late normally

small proportion can be <20 due to expansion

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18
Q

huntington’s inheritred how genetically?

A

autosomal dominant

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19
Q

What repeat in huntington’s?

A

CAG repeat in HTT gene

20
Q

What is HTT?

A

protein called huntingtin

21
Q

expanded CAG in huntingtin has toxic effect where in brain?

A

basal ganglia

esp. medium spiny neurons

22
Q

what do you see in brain scans of huntington’s?

A

cerebral atrophy

23
Q

PolyQ-huntingtin cleaved by capsases and make what toxic fragments?

A

N-terminal fragments

24
Q

huntington’s you lose function of normal HTT and also?

A

mRNA

25
Q

huntington’s 27-35 repeats is?

A

‘normal’ mutable

26
Q

huntington’s >40 repeats?

A

full penetrance

27
Q

huntington’s zone of reduced penetrance is how many?

A

36-39 repeats

28
Q

huntington’s less than 26 repeats?

A

normal

29
Q

CAG repeats mitigated by?

A

CCG interruptions

30
Q

huntington’s classical testing uses?

A

radioactive nucleotide tagging and PCR

31
Q

current huntington’s testing

A

fluorescent tagging and fragment analysis

32
Q

spinocereballar ataxias: genetics? onset? features?

A

autosomal dominant
late onset
progressive cerebellum degen and spinocerebellar tracts

33
Q

spinocereballar ataxias SCA6 causes?

A

Ca2+ channel protein malformation

34
Q

spinocereballar ataxias SCA 3 called?

A

Machado-Joseph disease

35
Q

what is Machado Joseph disease?

A

spinocereballar ataxias SCA3

36
Q

Friedreich ataxia genetics and onset?

A

autosomal recessive

puberty onset

37
Q

Friedreich ataxia features? 3

A
  1. limb/gait ataxia
  2. cardiomyopathy (65%)
  3. DM (30%)
38
Q

Friedreich ataxia mutation occurs where in genome?

A

intron, causes formation of triple helix and inhibits transcription

39
Q

Friedreich ataxia expansion letters?

A

GAA repeats expansion

40
Q

Friedreich ataxia defect causes what cellularly?

A

mitochondrial iron accumulation = oxidative damage

41
Q

Friedreich ataxia repeats normal range?

A

5-33

42
Q

Friedreich ataxia repeats expansion can be?

A

66-1700!

43
Q

Friedreich ataxia mutable range is?

A

34-65

44
Q

problems with pre-symptomatic genetic testing?

A

ethical as there is not really much treatment

45
Q

SCA results interpretations,

A

REVIEW!!

Jason's Neuro Block (54 decks)

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