Parkinsons - NF Flashcards
Parkinsons symptoms -6
Akinesia Bradykinesia Resting tremor Loss of postural reflexes Depression Constipation
Dopamine making pathway
Tyrosine
L dopa
Dopamine
Tyrosine to L dopa enzyme
Tyrosine hydroxylase
L dopa to dopamine enz
L dopa carboxylase
PARK2 cause
Mutation in PARKIN gene
Miss form of E2 ubiquitin protein ligase
E2 normally ubiquitinases alpha synuclein
Markes it for degredations
PARK2 found in
Juvenile form - early 20s
Autosomal recessive, slow progressions
Autosomal recessive PD
PARK2
PARK6
PARK6 cause
Mutation in PINK1
What does PINK do
Phosphorylates PARKIN, allowing the destruction of a synuclein
What is mitophagy
Breaking down broken mitochondira
Mutations associated with mitophagy
PINK1 and PARKIN
Autosomal dominant Parkinsons
PARK1
PARK4
PARK8
What is PARK1
Early onset
a synuclein mutation
causes it to become aggregated
What do a synuclein accumations cause
Lewy bodies that damage cells
PARK4 causes
early onset
a synuclein triplication
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