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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Author

Listed:
  • Marc Cruts

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Ilse Gijselinck

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Julie van der Zee

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Sebastiaan Engelborghs

    (Laboratory of Neurochemistry and Behavior
    University of Antwerp
    Middelheim General Hospital)

  • Hans Wils

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Daniel Pirici

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Rosa Rademakers

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Rik Vandenberghe

    (Department of Neurology)

  • Bart Dermaut

    (Ghent University Hospital, Ghent University)

  • Jean-Jacques Martin

    (Laboratory of Neuropathology, Institute Born-Bunge
    University of Antwerp)

  • Cornelia van Duijn

    (Erasmus Medical Center Rotterdam)

  • Karin Peeters

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Raf Sciot

    (University Hospital Gasthuisberg, Katholieke Universiteit Leuven (KULeuven))

  • Patrick Santens

    (Ghent University Hospital, Ghent University)

  • Tim De Pooter

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Maria Mattheijssens

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Marleen Van den Broeck

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Ivy Cuijt

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Krist'l Vennekens

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Peter P. De Deyn

    (Laboratory of Neurochemistry and Behavior
    University of Antwerp
    Middelheim General Hospital)

  • Samir Kumar-Singh

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

  • Christine Van Broeckhoven

    (Flanders Interuniversity Institute for Biotechnology
    Laboratory of Neurogenetics
    University of Antwerp)

Abstract

Dementia-causing mutation Two groups of neuroscientists have discovered that a mutation in the progranulin gene, which encodes a growth factor, can cause frontotemporal dementia (FTD). The condition, the second most common form of dementia among under-65s, impairs memory and personality and may also affect movement. The discovery may help to resolve confusion over the cause of the disease — mutations in a neighbouring gene called microtubule-associated protein tau were shown previously to be associated with some, but not all, cases of FTD.

Suggested Citation

  • Marc Cruts & Ilse Gijselinck & Julie van der Zee & Sebastiaan Engelborghs & Hans Wils & Daniel Pirici & Rosa Rademakers & Rik Vandenberghe & Bart Dermaut & Jean-Jacques Martin & Cornelia van Duijn & K, 2006. "Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21," Nature, Nature, vol. 442(7105), pages 920-924, August.
    • Handle: RePEc:nat:nature:v:442:y:2006:i:7105:d:10.1038_nature05017
    DOI: 10.1038/nature05017
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    Citations

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    Cited by:

    1. Pasqualina Colella & Ruhi Sayana & Maria Valentina Suarez-Nieto & Jolanda Sarno & Kwamina Nyame & Jian Xiong & Luisa Natalia Pimentel Vera & Jessica Arozqueta Basurto & Marco Corbo & Anay Limaye & Kar, 2024. "CNS-wide repopulation by hematopoietic-derived microglia-like cells corrects progranulin deficiency in mice," Nature Communications, Nature, vol. 15(1), pages 1-26, December.
    2. Rachel Tesla & Charlotte Guhl & Gordon C. Werthmann & Danielle Dixon & Basar Cenik & Yesu Addepalli & Jue Liang & Daniel M. Fass & Zachary Rosenthal & Stephen J. Haggarty & Noelle S. Williams & Bruce , 2024. "Benzoxazole-derivatives enhance progranulin expression and reverse the aberrant lysosomal proteome caused by GRN haploinsufficiency," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
    3. Hideyuki Takahashi & Sanaea Bhagwagar & Sarah H. Nies & Hongping Ye & Xianlin Han & Marius T. Chiasseu & Guilin Wang & Ian R. Mackenzie & Stephen M. Strittmatter, 2024. "Reduced progranulin increases tau and α-synuclein inclusions and alters mouse tauopathy phenotypes via glucocerebrosidase," Nature Communications, Nature, vol. 15(1), pages 1-23, December.
    4. Sebastian Boland & Sharan Swarup & Yohannes A. Ambaw & Pedro C. Malia & Ruth C. Richards & Alexander W. Fischer & Shubham Singh & Geetika Aggarwal & Salvatore Spina & Alissa L. Nana & Lea T. Grinberg , 2022. "Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
    5. Daniel J. Lodge & Hannah B. Elam & Angela M. Boley & Jennifer J. Donegan, 2023. "Discrete hippocampal projections are differentially regulated by parvalbumin and somatostatin interneurons," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
    6. Yachao He & Ibrahim Kaya & Reza Shariatgorji & Johan Lundkvist & Lars U. Wahlberg & Anna Nilsson & Dejan Mamula & Jan Kehr & Justyna Zareba-Paslawska & Henrik Biverstål & Karima Chergui & Xiaoqun Zhan, 2023. "Prosaposin maintains lipid homeostasis in dopamine neurons and counteracts experimental parkinsonism in rodents," Nature Communications, Nature, vol. 14(1), pages 1-22, December.

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