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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Skibinski, Gaia, Parkinson, Nicholas J, Brown, Jeremy M, Chakrabarti, Lisa, Lloyd, Sarah L, Hummerich, Holger, Nielsen, Jørgen E, Hodges, John R, Spillantini, Maria Grazia, Thusgaard, Tove, Brandner, Sebastian, Brun, Arne, Rossor, Martin N, Gade, Anders, Johannsen, Peter, Sørensen, Sven Asger, Gydesen, Susanne, Fisher, Elizabeth MC, Collinge, John·2005·Nature Genetics

DOI 10.1038/ng1609

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Abstract

We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and neurodegenerative disease.

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Authors: Skibinski, G., Parkinson, N. J., Brown, J. M., Chakrabarti, L., Lloyd, S. L., Hummerich, H., Nielsen, J. E., Hodges, J. R., Spillantini, M. G., Thusgaard, T., Brandner, S., Brun, A., Rossor, M. N., Gade, A., Johannsen, P., Sørensen, S. A., Gydesen, S., Fisher, E. M., & Collinge, J.
Affiliations: MRC Prion Unit (GB)
Addenbrooke's Hospital (GB)
University of Copenhagen (DK)
MRC Cognition and Brain Sciences Unit (GB)
University of Cambridge (GB)
Dantherm Power (Denmark) (DK)
Skåne University Hospital (SE)
UCL Queen Square Institute of Neurology (GB)
Copenhagen University Hospital (DK)
Holbæk Sygehus (DK)
Corresponding author: Fisher, Elizabeth MC
ORCID: Brown, Jeremy M
Chakrabarti, Lisa
Hummerich, Holger
Nielsen, Jørgen E
Hodges, John R
Spillantini, Maria Grazia
Brandner, Sebastian
Rossor, Martin N
Gade, Anders
Johannsen, Peter
Fisher, Elizabeth MC
Collinge, John
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2005-07-24
Volume: 37
Issue: 8
Pages: 806-808
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1609
OpenAlex: W2034183549
Cited by: 822
References: 15
Citations by year: 2026: 17 · 2025: 29 · 2024: 20 · 2023: 31 · 2022: 29 · 2021: 35 · 2020: 37 · 2019: 32 · 2018: 37 · 2017: 35 · 2016: 46 · 2015: 42 · 2014: 27 · 2013: 33 · 2012: 58
FWCI: 33.33
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
Lund University Publications (Lund University) (submittedVersion)
Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
Keywords: frontotemporal dementia, CHMP2B, endosomal sorting, aberrant mRNA splicing, missense mutations, autosomal dominant inheritance, chromosome 3, neurodegeneration
MeSH terms: Dementia, Humans, Mutation, Nerve Tissue Proteins, Pedigree, RNA Splicing, Mutation, Missense, Endosomal Sorting Complexes Required for Transport

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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

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