ホシノ　ジユンイチ   HOSHINO Junichi   星野　純一    所属   医学部 医学科（東京女子医科大学病院）    職種   教授・基幹分野長
論文種別	原著
言語種別	英語
査読の有無	査読なし
表題	Dialysis-related amyloidosis associated with a novel β2-microglobulin variant.
掲載誌名	正式名：Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 略　 称：Amyloid ISSNコード：17442818/13506129
巻・号・頁	28(1),pp.42-49
著者・共著者	Mizuno Hiroki, Hoshino Junichi, So Masatomo, Kogure Yuta, Fujii Takeshi, Ubara Yoshifumi, Takaichi Kenmei, Nakaniwa Tetsuko, Tanaka Hideaki, Kurisu Genji, Kametani Fuyuki, Nakagawa Mayuko, Yoshinaga Tsuneaki, Sekijima Yoshiki, Higuchi Keiichi, Goto Yuji, Yazaki Masahide
担当区分	2nd著者
発行年月	2021/03
概要	Till date, there had been no reported case of dialysis-related amyloidosis (DRA) associated with a β2-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 β2-microglobulin (V27M). Extracted amyloid protein was predominantly composed of variant β2-microglobulin. In vitro analysis revealed that this variant β2-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 β2-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 β2-microglobulin variant.
DOI	10.1080/13506129.2020.1813097
PMID	32875920