Dialysis-related amyloidosis associated with a novel ß2-microglobulin variant.
Amyloid
; 28(1): 42-49, 2021 Mar.
Article
in En
| MEDLINE
| ID: mdl-32875920
ABSTRACT
Till date, there had been no reported case of dialysis-related amyloidosis (DRA) associated with a ß2-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 ß2-microglobulin (V27M). Extracted amyloid protein was predominantly composed of variant ß2-microglobulin. In vitro analysis revealed that this variant ß2-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 ß2-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 ß2-microglobulin variant.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Beta 2-Microglobulin
/
Protein Aggregation, Pathological
/
Amyloid
/
Amyloidosis
Type of study:
Etiology_studies
/
Risk_factors_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Amyloid
Journal subject:
BIOQUIMICA
Year:
2021
Document type:
Article
Affiliation country:
Japón