Name of Fellow


Dr. N.A. Aziz

Institution


Funder


ZonMw

Contact information of fellow


Country


The Netherlands

Title of project/programme


Triplet repeat polymorphisms as modifiers of health and disease

Source of funding information


ZonMw

Total sum awarded (Euro)


€ 250,000

Start date of award


01/01/15

Total duration of award in years


4.0

The project/programme is most relevant to:


Huntington's disease

Keywords


Triplet repeat polymorphisms | polyglutamine diseases | Huntington disease | depression | dementia

Research Abstract


Diseases such as dementia, depression and diabetes are among the leading causes of
disability and exert a dramatic burden on society’s social, economic and health care
systems. In order to understand their pathophysiology and 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 because of the focus on single-nucleotide polymorphisms and consequently
neglect of other important genomic variations, especially DNA repeat expansions.
Expanded DNA repeats above a certain threshold are associated with many hereditary
neurological disorders, the most common of which are polyglutamine diseases caused by
intronic triplet (cytosine-adenine-guanine (CAG)) repeat expansions leading to a range of
cognitive, psychiatric, motor and metabolic abnormalities. Emerging findings, including
our own pilot data, suggest that even CAG repeat length variations in the normal range

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