molecular basis of neurodegenerative disorders

Question 1

first green block - 5’UTR

Answer 1

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

Question 2

What starts at AUG

Answer 2

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

Question 3

trinucleotide repeat

Answer 3

this is three nucleotides, repeated consequlatively many times

Question 4

CGG

Answer 4

Fragile x syndrome

Fragile EW MR

Question 5

CAC EXONIC CODING REGION

Answer 5

Huntington’s diseas e

spinocerebellar ataxia

Question 6

CTG end bit 3 encoding region

Answer 6

myotonic dystrophy

Question 7

GAA DNA bit

Answer 7

fredreich ataxia

Question 8

Huntington disease

Answer 8

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

Question 9

huntington disease molecular basis

Answer 9

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

Question 10

ethical issues go HD

Answer 10

no cure

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

Question 11

fragile X syndrome

Answer 11

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

Question 12

phenotype of fragile x syndrome

Answer 12

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

Question 13

molecular basis of fragile x syndrome

Answer 13

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

Question 14

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

Answer 14

it adopts a hairpin conformation in vitro

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

Question 15

genetic anticipation - myotonic dystrophy

Answer 15

• catarax

- it gets worse as the generations go on