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PMID: 7916192 Published · ppublish English Journal Article Review

Unifying features of systemic and cerebral amyloidosis.

Molecular neurobiology ·Vol. 8 ·No. 1 ·1994-02-00 ·Pages 49-64

Ghiso J, Wisniewski T, Frangione B

Abstract

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.

MeSH Terms
Alzheimer Disease/genetics,metabolism,pathology Amino Acid Sequence Amyloid/chemistry,classification Amyloid Neuropathies/genetics,metabolism,pathology Amyloid beta-Protein Precursor/genetics Amyloidosis/epidemiology,genetics,metabolism,pathology Brain Diseases/genetics,metabolism,pathology Chaperonins Genes Global Health Humans Molecular Sequence Data Mutation Organ Specificity Prealbumin/metabolism Prion Diseases/genetics,metabolism,pathology Proteins/metabolism Serum Amyloid A Protein/metabolism beta 2-Microglobulin/metabolism
Chemicals
Amyloid Amyloid beta-Protein Precursor Prealbumin Proteins Serum Amyloid A Protein beta 2-Microglobulin Chaperonins
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Ghiso J
Department of Pathology, New York University Medical Center, NY 10016.
Wisniewski T
Frangione B
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Article Info
Journal
Molecular neurobiology
Abbr.
Mol Neurobiol
ISSN
0893-7648
DOI
10.1007/BF02778007
Published
1994-02-00
Pages
49-64
Language
English
Region
United States
NLM ID
8900963
Subset
IM
External Links
PubMed source DOI: 10.1007/BF02778007 View journal details
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