Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation.

ABSTRACT: Objects: This study was intended to find out more about the clinical characterizations of patients carrying transthyretin (TTR) E61K (p.Glu81Lys) gene mutation and the biochemical characterization of this mutant protein. Materials and methods: Five patients who had been diagnosed with hereditary transthyretin amyloidosis and two asymptomatic carriers carrying TTR E61K gene mutation were reported. Biochemical and biophysical tests were conducted to observe the thermodynamic and kinetic stability. Fibril formation tests measured by turbidity assay were performed to explore the pathogenicity of this mutation. Kinetic stabilizer responsiveness was measured to determine the inhibitory effect on protein aggregation. Results: The average age of onset for the five patients was

SUBMITTER: Chu X 

PROVIDER: S-EPMC9596982 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature