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Mechanisms of Fibril Formation and Cellular Response
Published in Martha Skinner, John L. Berk, Lawreen H. Connors, David C. Seldin, XIth International Symposium on Amyloidosis, 2007
Martha Skinner, John L. Berk, Lawreen H. Connors, David C. Seldin
Hereditary gelsolin amyloidosis (AGel amyloidosis), also known as Meretoja Syndrome, was originally reported in Finland by Meretoja (1). Later, several kindred’s were found in other European countries, United States, Japan, and recently an Iranian case was characterized (2-4). Principal clinical signs are corneal lattice dystrophy, cranial neuropathy, and cutis laxa, but also other signs such as peripheral and autonomic neuropathy, cardiac, and renal involvement can occur (2). Gelsolin is a calcium- and polyphosphoinositide-regulated principal actin-modulating protein encoded by a locus on chromosome 9 at q32-q34 (5). Circulating gelsolin takes part in the clearance of actin filaments. AGel amyloidosis is caused by a guanine to adenine or very rarely, thymidine transversion at nucleotide 654 of the gelsolin gene (G654A or G654T gelsolin mutation) resulting in, respectively, asparagine or tyrosine for aspartic acid substitution at codon 187 corresponding to position 15 of mutant gelsolin (2). The mutant gelsolin is unable to bind calcium, which renders it susceptible to furin cleavage (6). In the evolution of clinical disease, not only amyloid deposition but also even impaired gelsolin function may contribute (7). All reported kindreds have been found to carry the variant G654A gelsolin, except the Danish and Czech who show a G654T gelsolin mutation (8). This study presents the first Iranian family with amyloidosis due to a G654A gelsolin mutation.
Multimodal retinal imaging of familial amyloid polyneuropathy
Published in Ophthalmic Genetics, 2019
Marta Latasiewicz, Anna Sala-Puigdollers, Andrea Gonzalez-Ventosa, Elena Milla, Alfredo Adan Civera
Amyloidosis is a group of conditions in which normally soluble proteins, as a result of defective folding, are deposited in the extracellular space of various tissues and organs causing their change in structure and dysfunction. Amyloidosis is classified according to the area of amyloid deposition as localized or systemic (generalized), and as primary or secondary depending on the relation to other, usually chronic inflammatory or proliferative conditions. Primary systemic amyloidosis occurs in acquired or hereditary (familial) forms. The two known hereditary forms with characteristic ocular involvement include the Meretoja syndrome with gelsolin deposition causing lattice corneal dystrophy type 2, and the transthyretin-related familial amyloid polyneuropathy (FAP) (1).