6M1B

A new V27M variant of beta 2 microglobulin induced amyloidosis in a patient with long-term hemodialysis

Summary for 6M1B

• Entry DOI: 10.2210/pdb6m1b/pdb
• Descriptor: Beta-2-microglobulin, GLYCEROL, MAGNESIUM ION, ... (6 entities in total)
• Functional Keywords: beta 2 microglobulin, amyloidosis, hemodialysis, immune system
• Biological source: Homo sapiens (Human)
• Total number of polymer chains: 1
• Total formula weight: 12254.96

Authors

So, M.,Nakahara, S.,Nakaniwa, T.,Tanaka, H.,Kurisu, G.,Goto, Y. (deposition date: 2020-02-25, release date: 2021-01-06, Last modification date: 2024-10-16)

Primary citation

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.
Dialysis-related amyloidosis associated with a novel beta 2 -microglobulin variant.
Amyloid, 28:42-49, 2021

PubMed Abstract: Till date, there had been no reported case of dialysis-related amyloidosis (DRA) associated with a β-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 β-microglobulin (V27M). Extracted amyloid protein was predominantly composed of variant β-microglobulin. analysis revealed that this variant β-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 β-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 β-microglobulin variant.

PubMed: 32875920
DOI: 10.1080/13506129.2020.1813097

Experimental method

X-RAY DIFFRACTION (1.88 Å)