PMID: 9547007Apr 18, 1998Paper

Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
S Kiuru

Abstract

Gelsolin-related familial amyloidosis, Finnish type, occurs worldwide, most likely as a result of sporadic low-frequency mutations. Two mutations at nucleotide 654 in the gelsolin gene have been demonstrated, which result in a characteristic triad of ophthalmologic, neurologic and dermatologic manifestations distinct from other amyloidoses. Some phenotypic variation, particularly in the age of onset and severity of manifestations, occurs but in general the disease is clinically rather homogeneous. Systemic deposition of amyloid is found in most tissues, predominantly in blood vessel walls and associated with basement membranes. The mutations result in amino acid substitutions with a charge change in the gelsolin molecule, postulated to alter the susceptibility for proteases thereby rendering the molecule amyloidogenic. Gelsolin fragments constitute the amyloid fibrils, but abnormal fragments also occur in patients' plasma and CSF providing evidence for the role of aberrant proteolysis in the disease pathomechanism. This is further strengthened by in vitro expression analyses showing both disease-related mutations to result in secretion of an abnormal gelsolin fragment, the likely precursor protein of gelsolin amyloid. Of the tw...Continue Reading

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