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HOSHINO Junichi
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor and Division head |
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| Article types | Original article |
| Language | English |
| Peer review | Non peer reviewed |
| Title | Dialysis-related amyloidosis associated with a novel β2-microglobulin variant. |
| Journal | Formal name：Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis Abbreviation：Amyloid ISSN code：17442818/13506129 |
| Volume, Issue, Page | 28(1),pp.42-49 |
| Author and coauthor | 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 |
| Authorship | 2nd author |
| Publication date | 2021/03 |
| Summary | 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 |