New USA Family has Apolipoprotein AI (ARG26) Variant
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.
KeywordsPeripheral Neuropathy Peptic Ulcer Disease Amyloid Fibril Cholesterol Acyltransferase Familial Amyloidotic Polyneuropathy
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