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New USA Family has Apolipoprotein AI (ARG26) Variant

  • Lee Anna Jones
  • Jennifer A. Harding
  • Alan S. Cohen
  • Martha Skinner

Abstract

We have studied a patient from Massachusetts with hereditary systemic amyloidosis significant for renal dysfunction and liver infiltration culminating in hepatic failure and death at the age of 43 years, with no history of peptic ulcer disease or peripheral neuropathy. Amyloid fibrils isolated from this patient were fractionated and the 11 KD product found in the major retarded protein peak was sequenced to reveal a homogeneous apo A-l variant with arginine for glycine at position 26. This same mutation has been reported in a family from Iowa with a type-III FAP and a 9 KD fragment of a variant apolipoprotein A-1 as the major protein in their amyloid deposits. Peripheral neuropathy and peptic ulcer disease were the prominent symptoms in the Iowan family. The differences between the clinical descriptions of the two kindreds suggest that the apo A-l mutation of arg26 may have a variety of manifestations.

Keywords

Peripheral Neuropathy Peptic Ulcer Disease Amyloid Fibril Cholesterol Acyltransferase Familial Amyloidotic Polyneuropathy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media Dordrecht 1991

Authors and Affiliations

  • Lee Anna Jones
    • 1
  • Jennifer A. Harding
    • 1
  • Alan S. Cohen
    • 1
  • Martha Skinner
    • 1
  1. 1.The Arthritis Center, Department of Medicine and the Thorndike Memorial LaboratoryBoston City Hospital, Boston University School of MedicineBostonUSA

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