Proteins Flashcards
Senile plaques
Neurofibrillary bundles
Protein b- amyloids
Alzheimers disease
neurodegenerative disease characterized by spongiform changes, astrocytic gliomas and neuronal loss
Prion disease
Apolipoprotein in alzheimers
E
Erythrocytes: spheroidal, less deformable, vulnerable to splenic sequestration
Hereditary spherocytosis
Diagnostic test for Hereditary spherocytosis
Osmotic fragility test
Homozygous recessive disorder
Point mutaion for b-chain, Glutamate ➡️ valine
Sickle cell disease
Single amino acid substitution in 6th position of b-globin chain
Glutamate ➡️ lysine
Hemoglobin C disease
Anemia
Tissue Anoxia
Painful crises
Protective against Malaria
Sickle cell disease
Jaundice
Anemia
Splenomegaly
Hereditary spherocytosis
Fibrillar collagen defect
Ehlers danlos
Collagen type 1 def
Osteogenesis imperfecta
Type 4 collagen deficiency
Alports syndrome
Dietary deficiency of copper
Menkes syndrome
Type 7 collagen deficiency
Epidermolysis Bullosa
Sensorineural hearing loss
Hematuria
End stage renal disease
Alports
Conductive hearing loss
Blue sclerae
Multiple fractures
Dental imperfection
Osteogenesis imperfecta
Kinky hair with growth retardation
Menkes
Skin breaks and blisters due to minor trauma
Epidermolysis bullosa
Fibrillin gene mutation
Marfans syndrome
Hyperextensible skin
Tendency to bleed
Hupermobile joints
⬆️ risk for berry aneurysm
Ehelers
