Name:	DownsLit
Title:	Genetically determined brain abnormalities in Down’s syndrome – towards a treatment
Researchers:
Funding Body:	Baily Thomas Charitable Fund
Funding Awarded:	£179,546
Start Date:	01/01/2009
End Date:

 

Background

People with Down syndrome (DS) have a learning disability (LD) (mental retardation), and eventually develop the pathology of Alzheimer’s disease (AD) in their brains. The reason for this devastating ‘double hit’ is unknown. However, we recently found that a brain chemical called myo-inositol is significantly increased in non-demented Down syndrome adults, and explains a significant proportion of their learning disability. Myo-inositol also causes the pathology of Alzheimer’s disease in both animal, and test tube, models. We recently found that dementia in Down syndrome was associated with an increase in myo-inositol compared with Alzheimer's Disease in the general population and also with further increases in myo-inositol compared with Down syndrome without dementia. Therefore, elevated myo-inositol may thus also be a pathological ‘tipping point’ into early dementia in Down Syndrome. Previous studies of lithium, a medicine that has long been used to treat mood and behavioural disorders, have shown that it reduces myo-inositol in the brain. However, these studies were done in the general population and not in people with Down syndrome.

DownLit

Hence, this exploratory study seeks to find out if myo-inositol can be reduced in the brains of people with Down syndrome. We will do this using a non-invasive brain imaging technique called magnetic resonance spectroscopy to measure myo-inositol in the brains of people with Down syndrome following a brief treatment with lithium. If successful, this will lead to confirmatory clinical trials involving a larger number of patients and will form the basis of future treatment trials to both improve cognitive function and reduce the risk for developing Alzheimer’s disease in Down syndrome