6m1b

Publication Abstract from PubMed

Till date, there had been no reported case of dialysis-related amyloidosis (DRA) associated with a beta2-microglobulin variant. We report here a 41-year-old haemodialysis patient with systemic amyloidosis, exhibiting macroglossia and swelling salivary glands, uncommon clinical manifestations for DRA. Molecular analysis showed that the patient had a new variant of beta2-microglobulin (V27M). Extracted amyloid protein was predominantly composed of variant beta2-microglobulin. In vitro analysis revealed that this variant beta2-microglobulin had a strong amyloidogenic propensity, probably owing to the decreased stability caused by a bulky methionine residue. Our data clearly show that V27M variant is amyloidogenic and this mutation results in unusual clinical manifestations. To date, only one amyloidogenic beta2-microglobulin variant (D76N) has been reported in non-dialysis patients. It is noteworthy that the V27M and D76N variants show substantial differences in both clinical phenotypes and pathomechanical features. This is the first case of DRA associated with a naturally occurring beta2-microglobulin variant.

Dialysis-related amyloidosis associated with a novel beta2-microglobulin variant.,Mizuno H, Hoshino J, So M, Kogure Y, Fujii T, Ubara Y, Takaichi K, Nakaniwa T, Tanaka H, Kurisu G, Kametani F, Nakagawa M, Yoshinaga T, Sekijima Y, Higuchi K, Goto Y, Yazaki M Amyloid. 2020 Sep 2:1-8. doi: 10.1080/13506129.2020.1813097. PMID:32875920^[1]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.