Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy.

Animals Cardiomyopathies / genetics DNA, Mitochondrial / genetics Disease Models, Animal Electron Transport Complex I / genetics Mice Mice, Inbred C57BL Mitochondria / genetics Mutation
F(1)F(o)-ATPase OPA1 adenine nucleotide translocator aging cardiomyopathy complex I complex IV mitochondrial DNA mitochondrial-nuclear interaction mtDNA instability

Journal

Cell metabolism
ISSN: 1932-7420
Titre abrégé: Cell Metab
Pays: United States
ID NLM: 101233170

Informations de publication

Date de publication:
08 01 2019
Historique:
received: 11 06 2017
revised: 01 02 2018
accepted: 01 08 2018
pubmed: 4 9 2018
medline: 25 2 2020
entrez: 4 9 2018
Statut: ppublish

Résumé

Nuclear-encoded mutations causing metabolic and degenerative diseases have highly variable expressivity. Patients sharing the homozygous mutation (c.523delC) in the adenine nucleotide translocator 1 gene (SLC25A4, ANT1) develop cardiomyopathy that varies from slowly progressive to fulminant. This variability correlates with the mitochondrial DNA (mtDNA) lineage. To confirm that mtDNA variants can modulate the expressivity of nuclear DNA (nDNA)-encoded diseases, we combined in mice the nDNA Slc25a4

Identifiants

DOI: 10.1016/j.cmet.2018.08.002 PMID: 30174309 PMC: PMC6717513
pubmed: 30174309
pii: S1550-4131(18)30503-5
doi: 10.1016/j.cmet.2018.08.002
pmc: PMC6717513
mid: NIHMS1036664
pii:
doi:

Substances chimiques

DNA, Mitochondrial 0
Electron Transport Complex I EC 7.1.1.2

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

78-90.e5

Subventions

Organisme : NINDS NIH HHS
ID : R01 NS021328
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS041850
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH108592
Pays : United States
Organisme : NIH HHS
ID : R01 OD010944
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM124532
Pays : United States

Informations de copyright

Copyright © 2018 Elsevier Inc. All rights reserved.

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Auteurs

Meagan J McManus (MJ)

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.

Martin Picard (M)

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA; Departments of Psychiatry and Neurology, Columbia University Medical Center, New York, NY 10032, USA.

Hsiao-Wen Chen (HW)

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.

Hans J De Haas (HJ)

Department of Medicine, Mount Sinai Hospital, New York, NY 10029, USA.

Prasanth Potluri (P)

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.

Jeremy Leipzig (J)

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.

Atif Towheed (A)

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.

Alessia Angelin (A)

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.

Partho Sengupta (P)

Department of Medicine, Mount Sinai Hospital, New York, NY 10029, USA.

Ryan M Morrow (RM)

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.

Brett A Kauffman (BA)

Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, USA.

Marc Vermulst (M)

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.

Jagat Narula (J)

Department of Medicine, Mount Sinai Hospital, New York, NY 10029, USA.

Douglas C Wallace (DC)

Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: wallaced1@email.chop.edu.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Mitochondrial DNA Variation Dictates...
questionsmedicales.fr › Maladies cardiovasculaires › Cardiopathies › Cardiomyopathies › Mitochondrial DNA Variation Dictates...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ADN › ADN mitochondrial › Mitochondrial DNA Variation Dictates...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Mitochondrial DNA Variation Dictates...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Métalloprotéines › Protéines de liaison au fer › Protéines à fer non hème › Ferrosulfoprotéines › Complexe I de la chaîne respiratoire › Mitochondrial DNA Variation Dictates...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Mitochondrial DNA Variation Dictates...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Lignées consanguines de souris › Souris de lignée C57BL › Mitochondrial DNA Variation Dictates...
questionsmedicales.fr › Cellules › Structures cellulaires › Fractions subcellulaires › Mitochondries › Mitochondrial DNA Variation Dictates...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mitochondrial DNA Variation Dictates...