Severe elastolysis in hereditary gelsolin (AGel) amyloidosis

A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation

“…Single point mutations of GSN gene are responsible for a systemic form of amyloidosis called Familial Amyloidosis Finnish type (FAF), also known as AGel amyloidosis (AGel). This autosomal dominant disease, first reported by Jouko Meretoja in 1969 [8] , causes progressive deposition of amyloid fibrils in different organs and tissues [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] . Currently there is no pharmacological treatment blocking or slowing any form of AGel, and only symptomatic treatments are offered to improve the overall quality of life.…”