BRAIN REPEATS SIGNED
Repeat polymorphisms as genetic modifiers of brain function in healthy subjects and Huntington disease mutation carriers
Total Cost €
0EC-Contrib. €
0Partnership
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Project "BRAIN REPEATS" data sheet
The following table provides information about the project.
| Coordinator |
UNIVERSITY COLLEGE LONDON
Organization address contact info |
| Coordinator Country | United Kingdom [UK] |
| Project website | https://ahmadaziz.org/funding/ |
| Total cost | 97˙727 € |
| EC max contribution | 97˙727 € (100%) |
| Programme |
1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility) |
| Code Call | H2020-MSCA-IF-2015 |
| Funding Scheme | MSCA-IF-EF-ST |
| Starting year | 2016 |
| Duration (year-month-day) | from 2016-10-01 to 2017-09-30 |
Partnership
Take a look of project's partnership.
| # | ||||
|---|---|---|---|---|
| 1 | UNIVERSITY COLLEGE LONDON | UK (London) | coordinator | 97˙727.00 |
Map
Project objective
Neuropsychiatric disorders such as dementia and depression are among the leading causes of disability and exert a dramatic burden on Europe’s healthcare systems. In order to devise more effective therapies it is essential to elucidate their genetic basis. However, to date genetic association studies have only identified a small fraction of the genetic determinants, possibly due to neglect of some important genomic variations, especially DNA repeat expansions. Expanded DNA repeats above a certain threshold are associated with various neurological disorders, the most common of which are polyglutamine diseases caused by exonic triplet (cytosine-adenine-guanine (CAG)) repeat expansions leading to a range of cognitive and psychiatric abnormalities. Emerging findings indicate that even CAG repeat length variations in the normal range in polyglutamine disease-associated genes (PDAGs) can affect mental health and cognition. Nevertheless, virtually nothing is known about the biological mechanisms through which these genetic variations affect brain structure and function. Therefore, the key objective of this proposal is to evaluate the effects of CAG repeat polymorphisms in PDAGs on brain structure and function, both in healthy controls and carriers of the mutation for Huntington disease (HD), the most common polyglutamine disease. To this end I will: 1) Systematically assess the association between these genetic polymorphisms and mental health, cognition and brain morphometric and functional MRI imaging in a large cohort of well-characterized control subjects and HD mutation carriers, and 2) Perform pathway analysis using gene expression data already available from these participants in order to elucidate the underlying molecular pathways. This proposal is unique as it translates novel insights into the pathophysiology of polyglutamine diseases to those of more common, complex disorders, thereby accelerating development of effective therapies for all patient groups.
Publications
| year | authors and title | journal | last update |
|---|---|---|---|
| 2017 |
Geerte Stuitje, Martine J. van Belzen, Sarah L. Gardiner, Willeke M. C. van Roon-Mom, Merel W. Boogaard, Sarah J. Tabrizi, Raymund A. C. Roos, N. A. Aziz Age of onset in Huntington’s disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes published pages: e42-e42, ISSN: 0006-8950, DOI: 10.1093/brain/awx122 |
Brain 140/7 | 2019-06-13 |
| 2017 |
Jorien M. M. van der Burg, Sarah L. Gardiner, Albert C. Ludolph, G. Bernhard Landwehrmeyer, Raymund A. C. Roos, N. Ahmad Aziz Body weight is a robust predictor of clinical progression in Huntington disease published pages: 479-483, ISSN: 0364-5134, DOI: 10.1002/ana.25007 |
Annals of Neurology 82/3 | 2019-06-13 |
| 2017 |
S L Gardiner, M J van Belzen, M W Boogaard, W M C van Roon-Mom, M P Rozing, A M van Hemert, J H Smit, A T F Beekman, G van Grootheest, R A Schoevers, R C Oude Voshaar, H C Comijs, B W J H Penninx, R C van der Mast, R A C Roos, N A Aziz Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression published pages: e1143, ISSN: 2158-3188, DOI: 10.1038/tp.2017.116 |
Translational Psychiatry 7/6 | 2019-06-13 |
| 2017 |
Arlin Keo, N. Ahmad Aziz, Oleh Dzyubachyk, Jeroen van der Grond, Willeke van Roon-Mom, Boudewijn Lelieveldt, Marcel Reinders, Ahmed Mahfouz Co-expression patterns between ATN1 and ATXN2 coincide with brain regions affected in Huntington\'s disease published pages: , ISSN: 1662-5099, DOI: 10.3389/fnmol.2017.00399 |
Front. Mol. Neurosci. | 2019-06-13 |
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