Danish type gelsolin related amyloidosis: 654G-T mutation is assoicated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type)

摘要

Background-Familial amyloidosis of the Finnish type (FAF, Finnish hereditary Amlyoidosis) is cuased by a 654G-A muta- Tion in the gelsolin gene on chromosome 9 Resulting in the expression of mutant Asn-187 geloslin which is abnormally pro- Teolytically processed generating amy- Loidogenic fragments that polymeries into Amyloid fibrils.