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Wednesday 26th October 2016

Gene link in Down's syndrome

6th July 2006

Scientists believe they have now discovered a possible cause for dementia in Down's syndrome.

They have identified a gene that, if over-produced, can cause some brain cells to stop working properly.

People with Down's syndrome have three copies of chromosome 21, instead of the normal two - this is called trisomy 21. Many will go on to develop dementia, similar to early-onset Alzheimer's disease, by the age of 40.

In both Down's syndrome and this form of Alzheimer's, brain cells, or neurons, responsible for learning, memory and attention, wither and die.

The next step, say the US researchers in the journal Neuron, is to find the mechanism for the process.

The researchers, lead by Professor William Mobley, director of the Neuroscience Institute at Stanford University, looked at mouse models, and discovered that mice with three copies of a gene called the amyloid precursor protein gene, or App, situated on chromosome 21, had larger neurons than mice with two copies of the gene.

They believe App causes cell death by interrupting signalling between cells that is needed to keep them healthy.

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