Diseases Of Protein Folding Flashcards
B-amyloid peptide misfolding
Alzheimer’s
Transthyretin
Familial amyloidotic polyneuropathy
p53
Cancer
Prion
Creutzfeldt-Jakob disease
Alpha 1 antitrypsin
Hereditary emphysema
CFTR
Cystic fibrosis (CFTR - cystic fibrosis transmembrane conductance regulator)
Misfolding B-amyloid peptide accumulates in human neural tissue, forming deposits known as neuritic plaques
Alzheimer’s Disease
Aggregation of unfolded proteins. Nerves and other organs are damaged by deposits of insoluble protein products.
Familial amyloidotic polyneuropathy
p53 prevents cells with damaged DNA from dividing. One class of p53 mutations leads to misfolding: which is unstable and destroyed.
Cancer
Prion protein with an altered conformation may seed conformational transitions in normal PrP molecules.
Creutzfeldt-Jakob
Mutated forms of this protein fold slowly, allowing its target, elastase, to destroy lung tissue
Hereditary emphysema
Folding intermediates of mutant CFTR forms don’t dissociate freely from chaperones, preventing the CFTR from reaching its destination in the membrane
Cystic fibrosis
Deficiencies of vitamin C
Scurvy
Deficiencies of vitamin D
Rickets
Mutation in gene coding for phenylalanine hydroxylase
Phenylketonuria (PKU)
Mutation in CFTR protein
Cystic fibrosis
Deficiency of insulin
Type I diabetes
Plasma enzyme used to diagnosis myocardial infarction
CK-MB
Measurement if blood tyrosine or TSH used to diagnosis what neonatal disease
Neonatal diagnosis of congenital hypothyroidism
Measurement of what to assessment therapy response in those with colon cancer
CEA
