Genetic and epigenetic study of an Alzheimer’s disease family with monozygotic triplets

Author:

Zhang Ming123,Dilliott Allison A4ORCID,Khallaf Roaa5,Robinson John F4,Hegele Robert A4,Comishen Michael5,Sato Christine3,Tosto Giuseppe678,Reitz Christiane689,Mayeux Richard678910,George-Hyslop Peter St3,Freedman Morris1112,Rogaeva Ekaterina3

Affiliation:

1. First Rehabilitation Hospital, School of Medicine, Tongji University, Shanghai, China

2. Collaborative Innovation Center for Brain Science, Tongji University, Shanghai, China

3. Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Ave, Toronto, ON, Canada

4. Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada

5. Department of Medicine, Division of Neurology, Baycrest Health Sciences, and University of Toronto, Toronto, ON, Canada

6. Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY, USA

7. The Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY, USA

8. Department of Neurology, College of Physicians and Surgeons, Columbia University and the New York Presbyterian Hospital, 710 West 168th Street, New York, NY, USA

9. Department of Epidemiology, Mailman School of Public Health, Columbia University, 722 West 168th Street, New York, NY, USA

10. Department of Psychiatry, College of Physicians and Surgeons, Columbia University. 1051 Riverside Drive, New York, NY, USA

11. Department of Medicine, Division of Neurology, Baycrest Health Sciences, Mt. Sinai Hospital, and University of Toronto, Toronto, ON, Canada

12. Rotman Research Institute, Baycrest Health Sciences, Toronto, ON, Canada

Abstract

Zhang, Dilliott et al. examine a unique family with early- and late-onset Alzheimer’s disease phenotypes, as well as disease-discordant monozygotic triplets. The triplets and the patient with early-onset disease are carriers of the APOE ε4-allele plus rare substitutions in other genes. Epigenetic analyses suggest accelerated ageing in the early-onset patient.

Funder

Canadian Consortium on Neurodegeneration in Aging

Ontario Neurodegenerative Disease Research Initiative

the Alzheimer Society of London and Middlesex

the Saul A. Silverman Family Foundation as a Canada International Scientific Exchange Program and Morris Kerzner Memorial Fund

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Reference32 articles.

1. Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation;Bruni;Neurology,2007

2. Maintained memory in aging is associated with young epigenetic age;Degerman;Neurobiol Aging,2017

3. Targeted next-generation sequencing and bioinformatics pipeline to evaluate genetic determinants of constitutional disease;Dilliott;J Vis Exp: JoVE,2018

4. The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration;Farhan;NPJ Genom Med,2016

5. The Toronto cognitive assessment (TorCA): normative data and validation to detect amnestic mild cognitive impairment;Freedman;Alzheimers Res Ther,2018

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