Mutation in gelsolin gene in Finnish hereditary amyloidosis

doi:10.1084/jem.172.6.1865

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Mutation in gelsolin gene in Finnish hereditary amyloidosis

E Levy, M Haltia, I Fernandez-Madrid, O Koivunen, J Ghiso, F Prelli and B Frangione
Department of Pathology, New York University Medical Center, New York 10016.

Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of familial amyloid polyneuropathy. The novel amyloid fibril protein found in these patients is a degradation fragment of gelsolin, an actin- binding protein. We found a mutation (adenine for guanine) at nucleotide 654 of the gelsolin gene in genomic DNA isolated from five FAF patients. This site is polymorphic since the normal allele was also present in all the patients tested. This mutation was not found in two unaffected family members and 11 normal controls. The A for G transition causes an amino acid substitution (asparagine for aspartic acid) that was found at position 15 of the amyloid protein. The mutation and consequent amino acid substitution may lead to the development of FAF.
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