protein misfolding disease

protein misfolding disease

Any abnormality that prevents a polypeptide chain from achieving its usual structure in the body, rendering it functionally abnormal or inactive. Examples include sickle cell disease, in which a single genetic substitution makes hemoglobin molecules distorted under low oxygen tension, or Alzheimer's disease, in which structurally abnormal amyloid plaques build up in the brain, causing dementia.