The genetics of the amyloidoses

Joel N. Buxbaum, Clement E. Tagoe

Research output: Contribution to journalReview articlepeer-review

142 Scopus citations


The amyloidoses are diseases in which abnormalities in the secondary structure of precursor proteins result in decreased solubility under physiologic conditions, with subsequent organ compromise. A total of 18 proteins have been definitively identified as amyloid precursors associated with human disease. Mutations in the genes that encode some of these proteins produce autosomal dominant disease in mid to late adult life. Until recently, the late onset has obscured the familial nature of some of the disorders. This is especially true in the apparently sporadic disease-producing deposits found even later in life. In many instances, these deposits are derived from precursors encoded by wild-type genes (perhaps influenced by alleles that are polymorphic in the normal population); in other cases, they represent autosomal dominant disease with age-dependent penetrance. The genetic aspects of amyloid diseases produced by the deposition of four different proteins have been investigated in detail and provide insights into the particular diseases and amyloidogenesis in general.

Original languageEnglish (US)
Pages (from-to)543-569
Number of pages27
JournalAnnual Review of Medicine
StatePublished - 2000
Externally publishedYes


  • Alzheimer's disease
  • Amyloidosis
  • Familial Mediterranean fever
  • Serum amyloid A
  • Transthyretin

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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