Hereditary renal amyloidosis associated with a mutant fibrinogen α–chain

Merrill D. Benson, Juris Liepnieks, Tomoyuki Uemichi, Gary Wheeler, Ricardo Correa

Research output: Contribution to journalArticle

174 Scopus citations

Abstract

Three members of a family who died with renal amyloidosis were found to share a single nucleotide substitution in the fibrinogen α-chain gene. The predicted arginine to leucine mutation (Arg554Leu) was proven by amino acid sequence analysis of amyloid fibril protein isolated from postmortem kidney of an affected individual. Direct genomic DNA sequencing and restriction fragment length polymorphism analysis demonstrated that all three affected individuals had the guanine to thymine 4993 transversion. This is the first demonstration of hereditary amyloidosis associated with a variant fibrinogen α-chain. Variants of circulating fibrinogen may be the cause of a number of systemic amyloidoses with primarily renal involvement.

Original languageEnglish (US)
Pages (from-to)252-255
Number of pages4
JournalNature genetics
Volume3
Issue number3
DOIs
StatePublished - Mar 1993

ASJC Scopus subject areas

  • Genetics

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