Nature Communications (Jan 2016)
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile
- Sophie Valleix,
- Guglielmo Verona,
- Noémie Jourde-Chiche,
- Brigitte Nédelec,
- P. Patrizia Mangione,
- Frank Bridoux,
- Alain Mangé,
- Ahmet Dogan,
- Jean-Michel Goujon,
- Marie Lhomme,
- Carolane Dauteuille,
- Michèle Chabert,
- Riccardo Porcari,
- Christopher A. Waudby,
- Annalisa Relini,
- Philippa J. Talmud,
- Oleg Kovrov,
- Gunilla Olivecrona,
- Monica Stoppini,
- John Christodoulou,
- Philip N. Hawkins,
- Gilles Grateau,
- Marc Delpech,
- Anatol Kontush,
- Julian D. Gillmore,
- Athina D. Kalopissis,
- Vittorio Bellotti
Affiliations
- Sophie Valleix
- Université Paris-Descartes, Sorbonne Paris Cité, Assistance Publique-Hôpitaux de Paris, Laboratoire de Biologie et Génétique Moléculaire, Hôpital Cochin
- Guglielmo Verona
- Centre for Amyloidosis and Acute Phase Proteins, National Amyloidosis Centre, University College London
- Noémie Jourde-Chiche
- Université de Marseille, AP-HM, Hôpital de la Conception
- Brigitte Nédelec
- INSERM, UMR_1163, Institut Imagine, Laboratoire de Génétique Ophtalmologique (LGO), Université Paris Descartes, Sorbonne Paris Cité
- P. Patrizia Mangione
- Centre for Amyloidosis and Acute Phase Proteins, National Amyloidosis Centre, University College London
- Frank Bridoux
- Department of Nephrology and Kidney Transplantation, Université de Poitiers, CHU Poitiers, Centre National de Référence Amylose AL et autres maladies par dépôts d'immunoglobulines monoclonales
- Alain Mangé
- Institut de Recherche en Cancérologie de Montpellier (IRCM)
- Ahmet Dogan
- Department of Laboratory Medicine and Pathology, Mayo Clinic
- Jean-Michel Goujon
- Université de Poitiers, CHU Poitiers, Service d’Anatomie et Cytologie Pathologiques, Centre National de Référence Amylose AL et autres maladies par dépôts d'immunoglobulines monoclonales
- Marie Lhomme
- Lipidomic core, ICANalytics, Institute of Cardiometabolism and Nutrition, ICAN, Pitié-Salpôtrière Hospital
- Carolane Dauteuille
- Sorbonne Universités, UPMC Univ Paris 06, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S 1166, Hôpital de la Pitié
- Michèle Chabert
- Sorbonne Universités, UPMC Univ Paris 06, INSERM, Université Paris-Descartes, Sorbonne Paris Cité, UMR_S 1138, Centre de Recherche des Cordeliers
- Riccardo Porcari
- Centre for Amyloidosis and Acute Phase Proteins, National Amyloidosis Centre, University College London
- Christopher A. Waudby
- Institute of Structural and Molecular Biology, University College London and Birkbeck College, University of London
- Annalisa Relini
- Department of Physics, University of Genoa
- Philippa J. Talmud
- Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London
- Oleg Kovrov
- Department of Medical Biosciences, Umeå University
- Gunilla Olivecrona
- Department of Medical Biosciences, Umeå University
- Monica Stoppini
- Department of Molecular Medicine, Institute of Biochemistry, University of Pavia
- John Christodoulou
- Institute of Structural and Molecular Biology, University College London and Birkbeck College, University of London
- Philip N. Hawkins
- Centre for Amyloidosis and Acute Phase Proteins, National Amyloidosis Centre, University College London
- Gilles Grateau
- Hôpital Tenon, AP-HP, Service de Médecine Interne, Centre de référence des amyloses d'origine inflammatoire et de la fièvre méditerranéenne familiale
- Marc Delpech
- Université Paris-Descartes, Sorbonne Paris Cité, Assistance Publique-Hôpitaux de Paris, Laboratoire de Biologie et Génétique Moléculaire, Hôpital Cochin
- Anatol Kontush
- Sorbonne Universités, UPMC Univ Paris 06, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S 1166, Hôpital de la Pitié
- Julian D. Gillmore
- Centre for Amyloidosis and Acute Phase Proteins, National Amyloidosis Centre, University College London
- Athina D. Kalopissis
- Sorbonne Universités, UPMC Univ Paris 06, INSERM, Université Paris-Descartes, Sorbonne Paris Cité, UMR_S 1138, Centre de Recherche des Cordeliers
- Vittorio Bellotti
- Centre for Amyloidosis and Acute Phase Proteins, National Amyloidosis Centre, University College London
- DOI
- https://doi.org/10.1038/ncomms10353
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 14
Abstract
Decrease in Apolipoprotein C-III (ApoC-III) yields a cardioprotective lipoprotein profile. Here, Valleix et al.reveal a novel ApoC-III variant conferring low plasma ApoC-III concentration and cardioprotection despite renal insufficiency, and, unexpectedly, causing dominant hereditary systemic amyloidosis due to its fibrillogenic nature.
