X-ray crystal structure of human ferritin pathogenic mutant LN2 (DNA mutation c.497_498dupTC, causing the amino acid change p.Phe167SerfsX26)

Description

Crystal structure of the human ferritin mutant LN2, associated with the neurodegenerative disorder neuroferritinopathy (MeSH term: C548080; Orphanet classification: Disorder; ICD-11 code: 8A01.1Y – chorea due to neuroferritinopathy). The findings suggest increased permeability of the mutant at the fourfold pore, resulting in a ferritin variant with reduced iron storage capacity, which may trigger inflammation and neurodegeneration.

Steps to reproduce

Purified protein was subjected to crystallization experiments using 100 mM Cd(NO₃)₂, 100 mM ammonium sulfate, and 200 mM sodium acetate at pH 5. The resulting crystals were analyzed by X-ray diffraction, leading to the determination of the X-ray crystal structure of the ferritin pathogenic mutant LN2. Expression and purification of the recombinant protein, as well as crystallization, were carried out using the facilities of the EBRAINS-Italy project.

Institutions

• Istituto di Biofisica Consiglio Nazionale delle Ricerche Sede secondaria di Milano

  Lombardia, Milano

Categories

Funders

• European Union - Next Generation EU - PNRR, MUR code IR0000011, CUP B51E22000150006, project ‘EBRAINS-Italy

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