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April 2019; 5 (2) ArticleOpen Access

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues

Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau
First published March 20, 2019, DOI: https://doi.org/10.1212/NXG.0000000000000317
Jay P. Ross
From the Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.
BSc
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Claire S. Leblond
From the Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.
PhD
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Hélène Catoire
From the Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.
PhD
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Kathryn Volkening
From the Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.
PhD
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Michael Strong
From the Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.
MD, FRCPC, FANN, FCAHS
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Lorne Zinman
From the Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.
MD, MSc, FRCPC
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Janice Robertson
From the Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.
PhD
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Patrick A. Dion
From the Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.
PhD
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Guy A. Rouleau
From the Department of Human Genetics (J.P.R., G.A.R.), McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute and Hospital (J.P.R., H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Pasteur Institute (C.S.L.), University Paris Diderot, Sorbonne Paris Cité, Paris, France; Department of Neurology and Neurosurgery (H.C., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada; Department of Clinical Neurological Sciences and Robarts Research Institute (K.V., M.S.A.N.N.), Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Sunnybrook Health Sciences Centre (L.Z.); and Tanz Centre for Research in Neurodegenerative Diseases (J.R.), University of Toronto, Toronto, Ontario, Canada.
MD PhD, FRCPC
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Citation
Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
Jay P. Ross, Claire S. Leblond, Hélène Catoire, Kathryn Volkening, Michael Strong, Lorne Zinman, Janice Robertson, Patrick A. Dion, Guy A. Rouleau
Neurol Genet Apr 2019, 5 (2) e317; DOI: 10.1212/NXG.0000000000000317

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Abstract

Objective To test for somatic C9orf72 hexanucleotide repeat expansion (HRE) and hexanucleotide repeat length instability in the spinal cord of amyotrophic lateral sclerosis (ALS) cases.

Methods Whole and partial spinal cords of 19 ALS cases were dissected into transversal sections (5 mm thick). The presence of C9orf72 HRE was tested in each independent section using RepeatPrimed PCR and amplicon-size genotyping. Index measures for the testing of mosaicism were obtained through serial dilutions of genomic DNA from an individual carrying a germline C9orf72 HRE in the genomic DNA of an individual without a C9orf72 HRE.

Results None of the sections examined supported the presence of a subpopulation of cells with a C9orf72 HRE. Moreover, the C9orf72 hexanucleotide repeat lengths measured were identical across all the spinal cord sections of each individual patient.

Conclusions We did not observe somatic instability of the C9orf72 HRE in disease relevant tissues of ALS cases.

Glossary

ALS=
amyotrophic lateral sclerosis;
HRE=
hexanucleotide repeat expansion;
RPPCR=
repeat-primed PCR

Footnotes

  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NG.

  • The Article Processing Charge was funded by the authors.

  • Received October 26, 2018.
  • Accepted in final form February 19, 2019.
  • Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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