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Flashcards in molecular basis of neurodegenerative disorders Deck (15)
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1
Q

first green block - 5’UTR

A

where messenger rna starts to be generated through the process of transcription

2
Q

What starts at AUG

A

this is where the protein coding information starts, split into these axons with interning introns which are removed via splicing

3
Q

trinucleotide repeat

A

this is three nucleotides, repeated consequlatively many times

4
Q

CGG

A

Fragile x syndrome

Fragile EW MR

5
Q

CAC EXONIC CODING REGION

A

Huntington’s diseas e

spinocerebellar ataxia

6
Q

CTG end bit 3 encoding region

A

myotonic dystrophy

7
Q

GAA DNA bit

A

fredreich ataxia

8
Q

Huntington disease

A

autosomal dominant
only one copy needed to be a sufferer

  • presentation is in the middle aged
  • 1/3 with psychiatric abnormalities and motor disturbances
  • chorea and dystonia
  • striatum most effected
  • atrophy of the caudate nucleus and putamen is present
9
Q

huntington disease molecular basis

A

there is a problem in an exon the CAG repeat number in increased in the patients. this codes for glutamine, protein with more glutamine

something about damaging the transporters along the axon

this means the protein misfolds and has more beta sheets

carboxy aligns with amine and forms a hydrogen bond.

forms aggregates and forms inclusion bodies

10
Q

ethical issues go HD

A

no cure

  • occurs after reproductive years
  • is it ethical to allow asymptomatic individuals from HD families to be tested
11
Q

fragile X syndrome

A

leading cause of inherited mental impairment
single gene disorder is found on a sex chromosome
effects males and females of all ages

effects females less as we have two copies of the X chromosome

12
Q

phenotype of fragile x syndrome

A

long face
prominent forehead and jaw

mental impairment
attention deficit hyperactivity diorder

mitral valve prolapse

autistic like behaviour - tactile defensive, poor eye contact and hand flapping

13
Q

molecular basis of fragile x syndrome

A

trinucelotide repeat problem in the 5 prime untranslated region one at the beginning - CGG

  • INCREASE NUMBER OF CGG
  • this means this gene is less frequently transcribed to less protein
  • the protein is highly expressed in neurones and regulates mRNA translation in dendrites

part of glutamate signalling pathway

14
Q

when DNA is unfound in the case of a trinucelotide repeat what happens

A

it adopts a hairpin conformation in vitro

it fucks up replication. I got nothing else for you its confusing as fuck

15
Q

genetic anticipation - myotonic dystrophy

A
  • catarax

- it gets worse as the generations go on