Mitochondrial haplogroups and cognitive progression in Parkinson's disease.


Journal

Brain : a journal of neurology
ISSN: 1460-2156
Titre abrégé: Brain
Pays: England
ID NLM: 0372537

Informations de publication

Date de publication:
05 01 2023
Historique:
received: 22 12 2021
revised: 08 08 2022
accepted: 22 08 2022
pubmed: 8 11 2022
medline: 11 1 2023
entrez: 7 11 2022
Statut: ppublish

Résumé

Mitochondria are a culprit in the onset of Parkinson's disease, but their role during disease progression is unclear. Here we used Cox proportional hazards models to exam the effect of variation in the mitochondrial genome on longitudinal cognitive and motor progression over time in 4064 patients with Parkinson's disease. Mitochondrial macro-haplogroup was associated with reduced risk of cognitive disease progression in the discovery and replication population. In the combined analysis, patients with the super macro-haplogroup J, T, U# had a 41% lower risk of cognitive progression with P = 2.42 × 10-6 compared to those with macro-haplogroup H. Exploratory analysis indicated that the common mitochondrial DNA variant, m.2706A>G, was associated with slower cognitive decline with a hazard ratio of 0.68 (95% confidence interval 0.56-0.81) and P = 2.46 × 10-5. Mitochondrial haplogroups were not appreciably linked to motor progression. This initial genetic survival study of the mitochondrial genome suggests that mitochondrial haplogroups may be associated with the pace of cognitive progression in Parkinson's disease over time.

Identifiants

pubmed: 36343661
pii: 6795880
doi: 10.1093/brain/awac327
pmc: PMC10202390
doi:

Substances chimiques

DNA, Mitochondrial 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

42-49

Subventions

Organisme : Medical Research Council
ID : MC_PC_17230
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : R01 NS115144
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS100603
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS095736
Pays : United States

Investigateurs

Ganqiang Liu (G)
Rebecca R Valentino (RR)
Jiajie Peng (J)
Zhixiang Liao (Z)
Joseph J Locascio (JJ)
Jean-Christophe Corvol (JC)
Xianjun Dong (X)
Jodi Maple-Grødem (J)
Meghan C Campbell (MC)
Alexis Elbaz (A)
Suzanne Lesage (S)
Alexis Brice (A)
Graziella Mangone (G)
John H Growdon (JH)
Albert Y Hung (AY)
Michael A Schwarzchild (MA)
Michael T Hayes (MT)
Anne-Marie Wills (AM)
Todd M Herrington (TM)
Bernard Ravian (B)
Ira Shoulson (I)
Pille Taba (P)
Sulev Kõks (S)
Thomas G Beach (TG)
Florence Cormier-Dequaire (F)
Guido Alves (G)
Ole-Bjørn Tysnes (OB)
Joel S Perlmutter (JS)
Peter Heutink (P)
Jacobus J van Hilten (JJ)
Meike Kasten (M)
Brit Mollenhauer (B)
Claudia Trenkwalder (C)
Christine Klein (C)
Roger A Barker (RA)
Caroline H Williams-Gray (CH)
Johan Marinus (J)
Clemens R Scherzer (CR)

Informations de copyright

© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

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Auteurs

Ganqiang Liu (G)

Neurobiology Research Center, School of Medicine, Shenzhen Campus of Sun Yat-sen University, Shenzhen, Guangdong 518107, China.

Chunming Ni (C)

Neurobiology Research Center, School of Medicine, Shenzhen Campus of Sun Yat-sen University, Shenzhen, Guangdong 518107, China.

Jiamin Zhan (J)

Neurobiology Research Center, School of Medicine, Shenzhen Campus of Sun Yat-sen University, Shenzhen, Guangdong 518107, China.

Weimin Li (W)

Neurobiology Research Center, School of Medicine, Shenzhen Campus of Sun Yat-sen University, Shenzhen, Guangdong 518107, China.

Junfeng Luo (J)

Neurobiology Research Center, School of Medicine, Shenzhen Campus of Sun Yat-sen University, Shenzhen, Guangdong 518107, China.

Zhixiang Liao (Z)

APDA Center for Advanced Parkinson Research, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Neurogenomics Lab, Harvard Medical School, Brigham and Women's Hospital, Boston, MA 02115, USA.

Joseph J Locascio (JJ)

APDA Center for Advanced Parkinson Research, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Neurogenomics Lab, Harvard Medical School, Brigham and Women's Hospital, Boston, MA 02115, USA.
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

Wenbiao Xian (W)

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510080, China.

Ling Chen (L)

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510080, China.

Zhong Pei (Z)

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong 510080, China.

Jean-Christophe Corvol (JC)

Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Assistance Publique Hôpitaux de Paris, Département de Neurologie et de Génétique, Hôpital Pitié-Salpêtrière, F-75013 Paris, France.

Jodi Maple-Grødem (J)

The Norwegian Centre for Movement Disorders, Stavanger University Hospital, 4068 Stavanger, Norway.
Department of Chemistry, Bioscience and Environmental Engineering, University of Stavanger, 4021 Stavanger, Norway.

Meghan C Campbell (MC)

Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

Alexis Elbaz (A)

Paris-Saclay University, UVSQ, Inserm, Gustave Roussy, 'Exposome and Heredity' Team, CESP, F94805 Villejuif, France.

Suzanne Lesage (S)

Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Assistance Publique Hôpitaux de Paris, Département de Neurologie et de Génétique, Hôpital Pitié-Salpêtrière, F-75013 Paris, France.

Alexis Brice (A)

Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Assistance Publique Hôpitaux de Paris, Département de Neurologie et de Génétique, Hôpital Pitié-Salpêtrière, F-75013 Paris, France.

Albert Y Hung (AY)

Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

Michael A Schwarzschild (MA)

Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

Michael T Hayes (MT)

Department of Neurology, Brigham and Women's Hospital, Boston, MA 02115, USA.

Anne-Marie Wills (AM)

Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

Bernard Ravina (B)

Praxis Precision Medicines, Cambridge, MA 02142, USA.

Ira Shoulson (I)

Department of Neurology, Center for Health and Technology, University of Rochester, Rochester, NY 14642, USA.

Pille Taba (P)

Department of Neurology and Neurosurgery, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.
Neurology Clinic, Tartu University Hospital, Tartu 50406, Estonia.

Sulev Kõks (S)

Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Perth, WA 6150, Australia.
Perron Institute for Neurological and Translational Science, Nedlands, WA 6009, Australia.

Thomas G Beach (TG)

Banner Sun Health Research Institute, Sun City, AZ 85351, USA.

Florence Cormier-Dequaire (F)

Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Assistance Publique Hôpitaux de Paris, Département de Neurologie et de Génétique, Hôpital Pitié-Salpêtrière, F-75013 Paris, France.

Guido Alves (G)

The Norwegian Centre for Movement Disorders, Stavanger University Hospital, 4068 Stavanger, Norway.
Department of Chemistry, Bioscience and Environmental Engineering, University of Stavanger, 4021 Stavanger, Norway.
Department of Neurology, Stavanger University Hospital, 4068 Stavanger, Norway.

Ole-Bjørn Tysnes (OB)

Department of Neurology, Haukeland University Hospital, 5020 Bergen, Norway.
Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway.

Joel S Perlmutter (JS)

Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Departments of Radiology and Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA.
Program of Physical Therapy and Program of Occupational Therapy, Washington University School of Medicine, St. Louis, MO 63110, USA.

Peter Heutink (P)

German Center for Neurodegenerative diseases (DZNE), 72076 Tübingen, Germany.

Jacobus J van Hilten (JJ)

Department of Neurology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

Roger A Barker (RA)

John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0PY, UK.
Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge CB2 0AW, UK.

Caroline H Williams-Gray (CH)

John Van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0PY, UK.

Clemens R Scherzer (CR)

APDA Center for Advanced Parkinson Research, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Neurogenomics Lab, Harvard Medical School, Brigham and Women's Hospital, Boston, MA 02115, USA.
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Department of Neurology, Brigham and Women's Hospital, Boston, MA 02115, USA.

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