NR AENA
AU Ghiso,J.; Wisniewski,T.; Frangione,B.
TI Unifying features of systemic and cerebral amyloidosis
QU Molecular Neurobiology 1994 Feb; 8(1): 49-64
PT journal article; review; review, academic
AB Amyloidosis is a generic term for a group of clinically and biochemically diverse diseases that are characterized by the deposition of an insoluble fibrillar protein in the extracellular space. Over 16 biochemically distinct amyloids are known. Despite this diversity, all amyloids have a particular ultrastructural and tinctorial appearance, a beta-pleated sheet structure, and are codeposited with a group of amyloid-associated proteins. The most common amyloidosis is Alzheimer's disease (AD), where A beta is the main component of the amyloid. Recently it has been found that A beta exists as a normal soluble protein (sA beta) in biological fluids. This links AD more closely to some of the systemic amyloidoses, where the amyloid precursor is found in the circulation normally. Numerous mutations have been found in the A beta precursor (beta PP) gene, associated with familial AD. Many mutations are also found in some of the hereditary systemic amyloidoses. For example, over 40 mutations in the transthyretin (TTR) gene are associated with amyloid. However, both A beta and TTR related amyloid deposition can occur with no mutation. The pathogenesis of amyloid is complex, and appears to be associated with genetic and environmental risk factors that can be similar in the systemic and cerebral amyloidoses.
ZR 245
MH Alzheimer Disease/genetics/metabolism/pathology; Amino Acid Sequence; Amyloid/chemistry/classification; Amyloid Neuropathies/genetics/metabolism/pathology; Amyloid Protein SAA/metabolism; Amyloid beta-Protein Precursor/genetics; *Amyloidosis/epidemiology/genetics/metabolism/pathology; Brain Diseases/genetics/metabolism/pathology; Chaperonins; Genes, Structural; Human; Molecular Sequence Data; Mutation; Organ Specificity; Prealbumin/metabolism; Prion Diseases/genetics/metabolism/pathology; Proteins/metabolism; World Health; beta 2-Microglobulin/metabolism
AD Department of Pathology, New York University Medical Center, NY 10016.
SP englisch
PO USA