Closing the tau loop: the missing tau mutation Article Swipe
Allan McCarthy
,
Róisín Lonergan
,
Diana A. Olszewska
,
Seán O’Dowd
,
Gemma Cummins
,
Brian Magennis
,
Emer Fallon
,
Niall Pender
,
Edward D. Huey
,
Stephanie Cosentino
,
Killian O’Rourke
,
Brendan D. Kelly
,
Martin O’Connell
,
Isabelle Delon
,
Michael Farrell
,
Maria Grazia Spillantini
,
Lewis P. Rowland
,
Stanley Fahn
,
Peter J. Craig
,
Michael Hutton
,
Timothy Lynch
·
YOU?
·
· 2015
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awv234
YOU?
·
· 2015
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awv234
Frontotemporal lobar degeneration comprises a group of disorders characterized by behavioural, executive, language impairment and sometimes features of parkinsonism and motor neuron disease. In 1994 we described an Irish-American family with frontotemporal dementia linked to chromosome 17 associated with extensive tau pathology. We named this disinhibition-dementia-parkinsonism-amyotrophy complex. We subsequently identified mutations in the MAPT gene. Eleven MAPT gene splice site stem loop mutations were identified over time except for 5' splice site of exon 10. We recently identified another Irish family with autosomal dominant early amnesia and behavioural change or parkinsonism associated with the 'missing' +15 mutation at the intronic boundary of exon 10. We performed a clinical, neuropsychological and neuroimaging study on the proband and four siblings, including two affected siblings. We sequenced MAPT and performed segregation analysis. We looked for a biological effect of the tau variant by performing real-time polymerase chain reaction analysis of RNA extracted from human embryonic kidney cells transfected with exon trapping constructs. We found a c.915+15A>C exon 10/intron 10 stem loop mutation in all affected subjects but not in the unaffected. The c.915+15A>C variant caused a shift in tau splicing pattern to a predominantly exon 10+ pattern presumably resulting in predominant 4 repeat tau and little 3 repeat tau. This strongly suggests that the c.915+15A>C variant is a mutation and that it causes frontotemporal dementia linked to chromosome 17 in this pedigree by shifting tau transcription and translation to +4 repeat tau. Tau (MAPT) screening should be considered in families where amnesia or atypical parkinsonism coexists with behavioural disturbance early in the disease process. We describe the final missing stem loop tau mutation predicted 15 years ago. Mutations have now been identified at all predicted sites within the 'stem' when the stem-loop model was first proposed and no mutations have been found within the 'loop' region as expected. Therefore we 'close the tau loop' having 'opened the loop' 21 years ago.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/brain/awv234
- https://academic.oup.com/brain/article-pdf/138/10/3100/13798831/awv234.pdf
- OA Status
- bronze
- Cited By
- 41
- References
- 49
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W1926945198
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W1926945198Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1093/brain/awv234Digital Object Identifier
- Title
-
Closing the tau loop: the missing tau mutationWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2015Year of publication
- Publication date
-
2015-08-21Full publication date if available
- Authors
-
Allan McCarthy, Róisín Lonergan, Diana A. Olszewska, Seán O’Dowd, Gemma Cummins, Brian Magennis, Emer Fallon, Niall Pender, Edward D. Huey, Stephanie Cosentino, Killian O’Rourke, Brendan D. Kelly, Martin O’Connell, Isabelle Delon, Michael Farrell, Maria Grazia Spillantini, Lewis P. Rowland, Stanley Fahn, Peter J. Craig, Michael Hutton, Timothy LynchList of authors in order
- Landing page
-
https://doi.org/10.1093/brain/awv234Publisher landing page
- PDF URL
-
https://academic.oup.com/brain/article-pdf/138/10/3100/13798831/awv234.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://academic.oup.com/brain/article-pdf/138/10/3100/13798831/awv234.pdfDirect OA link when available
- Concepts
-
Closing (real estate), Mutation, Neuroscience, Loop (graph theory), Psychology, Genetics, Biology, Mathematics, Combinatorics, Political science, Gene, LawTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
41Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 4, 2023: 1, 2022: 3, 2021: 6Per-year citation counts (last 5 years)
- References (count)
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49Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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