Cryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosis

Abstract Systemic ALys amyloidosis is a debilitating protein misfolding disease that arises from the formation of amyloid fibrils from C-type lysozyme. We here present a 2.8 Å cryo-electron microscopy structure of an amyloid fibril, which was isolated from the abdominal fat tissue of a patient who e...

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Main Authors: Sara Karimi-Farsijani, Kartikay Sharma, Marijana Ugrina, Lukas Kuhn, Peter Benedikt Pfeiffer, Christian Haupt, Sebastian Wiese, Ute Hegenbart, Stefan O. Schönland, Nadine Schwierz, Matthias Schmidt, Marcus Fändrich
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Language:English
Published: Nature Portfolio 2024-11-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-54091-7
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author Sara Karimi-Farsijani
Kartikay Sharma
Marijana Ugrina
Lukas Kuhn
Peter Benedikt Pfeiffer
Christian Haupt
Sebastian Wiese
Ute Hegenbart
Stefan O. Schönland
Nadine Schwierz
Matthias Schmidt
Marcus Fändrich
author_facet Sara Karimi-Farsijani
Kartikay Sharma
Marijana Ugrina
Lukas Kuhn
Peter Benedikt Pfeiffer
Christian Haupt
Sebastian Wiese
Ute Hegenbart
Stefan O. Schönland
Nadine Schwierz
Matthias Schmidt
Marcus Fändrich
author_sort Sara Karimi-Farsijani
collection DOAJ
description Abstract Systemic ALys amyloidosis is a debilitating protein misfolding disease that arises from the formation of amyloid fibrils from C-type lysozyme. We here present a 2.8 Å cryo-electron microscopy structure of an amyloid fibril, which was isolated from the abdominal fat tissue of a patient who expressed the D87G variant of human lysozyme. We find that the fibril possesses a stable core that is formed by all 130 residues of the fibril precursor protein. There are four disulfide bonds in each fibril protein that connect the same residues as in the globularly folded protein. As the conformation of lysozyme in the fibril is otherwise fundamentally different from native lysozyme, our data provide a structural rationale for the need of protein unfolding in the development of systemic ALys amyloidosis.
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publisher Nature Portfolio
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series Nature Communications
spelling doaj-art-f810210754504cdca3221e85b66b7ea62024-11-10T12:33:23ZengNature PortfolioNature Communications2041-17232024-11-011511910.1038/s41467-024-54091-7Cryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosisSara Karimi-Farsijani0Kartikay Sharma1Marijana Ugrina2Lukas Kuhn3Peter Benedikt Pfeiffer4Christian Haupt5Sebastian Wiese6Ute Hegenbart7Stefan O. Schönland8Nadine Schwierz9Matthias Schmidt10Marcus Fändrich11Institute of Protein Biochemistry, Ulm UniversityInstitute of Protein Biochemistry, Ulm UniversityInstitute of Physics, University of AugsburgInstitute of Protein Biochemistry, Ulm UniversityInstitute of Protein Biochemistry, Ulm UniversityInstitute of Protein Biochemistry, Ulm UniversityCore Unit Mass Spectrometry and Proteomics, Medical Faculty, Ulm UniversityMedical Department V, Amyloidosis Center, Heidelberg University HospitalMedical Department V, Amyloidosis Center, Heidelberg University HospitalInstitute of Physics, University of AugsburgInstitute of Protein Biochemistry, Ulm UniversityInstitute of Protein Biochemistry, Ulm UniversityAbstract Systemic ALys amyloidosis is a debilitating protein misfolding disease that arises from the formation of amyloid fibrils from C-type lysozyme. We here present a 2.8 Å cryo-electron microscopy structure of an amyloid fibril, which was isolated from the abdominal fat tissue of a patient who expressed the D87G variant of human lysozyme. We find that the fibril possesses a stable core that is formed by all 130 residues of the fibril precursor protein. There are four disulfide bonds in each fibril protein that connect the same residues as in the globularly folded protein. As the conformation of lysozyme in the fibril is otherwise fundamentally different from native lysozyme, our data provide a structural rationale for the need of protein unfolding in the development of systemic ALys amyloidosis.https://doi.org/10.1038/s41467-024-54091-7
spellingShingle Sara Karimi-Farsijani
Kartikay Sharma
Marijana Ugrina
Lukas Kuhn
Peter Benedikt Pfeiffer
Christian Haupt
Sebastian Wiese
Ute Hegenbart
Stefan O. Schönland
Nadine Schwierz
Matthias Schmidt
Marcus Fändrich
Cryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosis
Nature Communications
title Cryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosis
title_full Cryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosis
title_fullStr Cryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosis
title_full_unstemmed Cryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosis
title_short Cryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosis
title_sort cryo em structure of a lysozyme derived amyloid fibril from hereditary amyloidosis
url https://doi.org/10.1038/s41467-024-54091-7
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