The molecular basis of some neurodegenerative diseases Flashcards Preview

MD4001 Pathology > The molecular basis of some neurodegenerative diseases > Flashcards

Flashcards in The molecular basis of some neurodegenerative diseases Deck (15):
1

what is genetic anticipation

for familial diseases, the disease onset become earlier with each generation and the symptoms become more severe. Found in neurological diseases with common in trinucleotide repeats

2

name some trinucleotide repeat disorders

fragile X
huntingtons
spinobulbar muscular atrophy
spinocerebellar ataxia
myotonic dystrophy

3

what parts of the brain are most affected in huntingtons

striatum
(caudate and putamen)

4

what is the genetic repeat in huntingtons

CAG, which codes for glutamine, hence a polyglutamine tract in the coding region causes an altered protein

5

what is the effect of polyglutamine tracts in Huntington gene

protein misfolds and aggregates, creating inclusion bodies

6

what are the features of fragile X

mild to moderate learning disability
single gene disorder on X chromosome
males twice as likely as females (x linked dominant)

Long face - prominent forehead & jaw
Mitral valve prolapse
ADD
autistic like behaviours

7

what are the inheritance features of fragile X

FMR1 CGG repeat
trinucleotide expansion
involves 'premutations'
found in non coding region
transcriptional silencing (down regulation of a gene)

8

describe the FMR1 protein

highly expressed in neurons
regulates mRNA translation in dendrites

9

what are the features of myotonic dystrophy

gradually worsening muscle loss and weakness. Muscles often contract and are unable to relax.
cataracts,
intellectual disability,
heart conduction problems.
autosomal dominant

displays genetic anticipation (classical and congenital forms, depending on number of repeats)

10

describe the implications of amyloid precursor protein in alzeimers

abnormal cleavage of amyloid precursor protein leads to excess amyloid accumulation

11

what disease are presenilin 1 and 2 associated with

early onset Alzheimer's disease

affects gamma secretase enzyme complex

12

what is the function of apolipoprotein E

cholesterol transport and clears amyloid B

break down might generate toxic products

13

what possible treatments could be used for alzeimer's in the future

secretatse inhibitors
prevents phosphorylation of tau
aggregation inhibitors
statins
immunisation

14

name some prion diseases (transmissible spongiform encephalopathy)

creutzfeld jakob disease
kuru
fatal familial insomnia

may be inherited, sporadic or acquired

15

what is variant CJD

CJD from eating infected beef