LRP10 variants in progressive supranuclear palsy.

Aged Cohort Studies Exons Female Genetic Variation / genetics Humans LDL-Receptor Related Proteins / genetics Male Middle Aged Supranuclear Palsy, Progressive / genetics Exome Sequencing
Genetics LRP10 Progressive supranuclear palsy Rare variants

Journal

Neurobiology of aging
ISSN: 1558-1497
Titre abrégé: Neurobiol Aging
Pays: United States
ID NLM: 8100437

Informations de publication

Date de publication:
10 2020
Historique:
received: 20 06 2019
revised: 31 01 2020
accepted: 19 04 2020
pubmed: 13 6 2020
medline: 30 6 2021
entrez: 13 6 2020
Statut: ppublish

Résumé

The aim of this study was to explore whether variants in LRP10, recently associated with Parkinson's disease and dementia with Lewy bodies, are observed in 2 large cohorts (discovery and validation cohort) of patients with progressive supranuclear palsy (PSP). A total of 950 patients with PSP were enrolled: 246 patients with PSP (n = 85 possible (35%), n = 128 probable (52%), n = 33 definite (13%)) in the discovery cohort and 704 patients with definite PSP in the validation cohort. Sanger sequencing of all LRP10 exons and exon-intron boundaries was performed in the discovery cohort, and whole-exome sequencing was performed in the validation cohort. Two patients from the discovery cohort and 8 patients from the validation cohort carried a rare, heterozygous, and possibly pathogenic LRP10 variant (p.Gly326Asp, p.Asp389Asn, and p.Arg158His, p.Cys220Tyr, p.Thr278Ala, p.Gly306Asp, p.Glu486Asp, p.Arg554∗, p.Arg661Cys). In conclusion, possibly pathogenic LRP10 variants occur in a small fraction of patients with PSP and may be overrepresented in these patients compared with controls. This suggests that possibly pathogenic LRP10 variants may play a role in the development of PSP.

Identifiants

DOI: 10.1016/j.neurobiolaging.2020.04.016 PMID: 32527607 PMC: PMC8281359
pubmed: 32527607
pii: S0197-4580(20)30136-6
doi: 10.1016/j.neurobiolaging.2020.04.016
pmc: PMC8281359
mid: NIHMS1718895
pii:
doi:

Substances chimiques

LDL-Receptor Related Proteins 0
LRP10 protein, human 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

311.e5-311.e10

Subventions

Organisme : NIA NIH HHS
ID : R01 AG054060
Pays : United States
Organisme : NIA NIH HHS
ID : P01 AG017586
Pays : United States
Organisme : NINDS NIH HHS
ID : UH3 NS104095
Pays : United States
Organisme : NINDS NIH HHS
ID : UG3 NS104095
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS100693
Pays : United States

Informations de copyright

Copyright © 2020. Published by Elsevier Inc.

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Auteurs

Leonie J M Vergouw (LJM)

Department of Neurology and Alzheimer Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Shamiram Melhem (S)

Department of Neurology and Alzheimer Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Laura Donker Kaat (L)

Department of Neurology and Alzheimer Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Wang Z Chiu (WZ)

Department of Neurology and Alzheimer Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Demy J S Kuipers (DJS)

Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Guido Breedveld (G)

Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Agnita J W Boon (AJW)

Department of Neurology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Li-San Wang (LS)

Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Adam C Naj (AC)

Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Elizabeth Mlynarksi (E)

Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Laura Cantwell (L)

Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Marialuisa Quadri (M)

Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Owen A Ross (OA)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

Dennis W Dickson (DW)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

Gerard D Schellenberg (GD)

Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

John C van Swieten (JC)

Department of Neurology and Alzheimer Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Vincenzo Bonifati (V)

Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Frank Jan de Jong (FJ)

Department of Neurology and Alzheimer Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. Electronic address: f.j.dejong@erasmusmc.nl.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › LRP10 variants in progressive supranuclear palsy.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › LRP10 variants in progressive supranuclear palsy.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › LRP10 variants in progressive supranuclear palsy.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › LRP10 variants in progressive supranuclear palsy.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › LRP10 variants in progressive supranuclear palsy.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs aux lipoprotéines › Récepteurs aux lipoprotéines LDL › Protéines apparentées au récepteur LDL › LRP10 variants in progressive supranuclear palsy.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › LRP10 variants in progressive supranuclear palsy.
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Paralysie › Ophtalmoplégie › Paralysie supranucléaire progressive › LRP10 variants in progressive supranuclear palsy.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › LRP10 variants in progressive supranuclear palsy.