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Question	Answer
Sickle cell disease is due to which mutation resulting in abnormally folded haemoglobin (HbS)	Glu -> Val
The misfolded HbS results in what characteristic	Polymerisation
Polymerised haemoglobin have what characteristics	Crystallised chain structures which disrupt the membrane of red blood cells
Alzheimer's disease is mostly likely the result of what	formation of stable aggregations of proteins and amyloid proteins forming plaques
Creutzfeldt-Jakob's disease is the result of what	stable aggregations of proteins called prions
What is a prion	A protein that can fold in multiple, structurally distinct ways, at least one of which is transmissible to other prion proteins
Where are proteins found	on the surface of cells
Prion protein polymerisation results in conversion of normal PrPC into what	pathogenic form PrSC
Polymerisation of the pathogenic form (PrPSC) in CJD forms what	fibrils (aggregates)
Structure of normal prion proteins (PrPC)	Alpha helical, susceptible to proteolysis
Structure of pathogenic prion proteins (PrPSC)	Beta sheet becomes present, protease resistant so it accumulates Identical amino-acid sequence to normal prion protein
Neurological symptoms of CJD (5)	Difficulties with walking, slurred speech, numbness, dizziness, visual problems
Psychological symptoms of CJD (5)	Severe depression, withdrawal, anxiety, irritability, insomnia

Th1L04 Misfolded protein disorders

	Created by Emma Allde over 9 years ago