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Intracerebral haemorrhage in Down syndrome: protected or predisposed?

By rejutal, on 30 June 2016

Lewis Buss, now in the final stages of his medical training joined Dr André Strydom and the LonDownS Consortium to investigate the prevalence of intracerebral haemorrhage (ICH) in people with Down syndrome.

ICH in Down syndrome is an interesting phenomenon: Down syndrome is nearly always caused by a triplication (rather than the usual 2 copies) of chromosome 21. The chromosome contains a gene called amyloid precursor protein (APP) which drives amyloid beta production. People with Down syndrome are extremely prone to developing Alzheimer’s disease and a big part of this is thought to be due to a higher dosage of APP. Amyloid fragments aggregate in functional tissue in the brain (the characteristic plaques seen in Alzheimer’s disease) but also in the cerebral microvasculature. It is this vascular amyloidosis that is associated with ICH.

In the review, Lewis and his colleagues describe how although people with Down syndrome are at increased risk of ICH, this risk is not so great as in people who have three copies of APP (dup-APP) but not of other genes on the chromosome. The most interesting part of this paper comes during their exploration of pathophysiological mechanisms in people with Down syndrome and those with dup-APP. Is there a a part of chromosome 21 which may actually protect people against ICH? Read the paper to find out!

Lewis had this to say about his work:

“I did my undergraduate psychiatry placement in learning disability and general adult psychiatry. The experience was fascinating: speaking to the patients, the long ward rounds, the legal and ethical discussions and the philosophical questions about psychiatry that even this short placement brought up. One of the consultant psychiatrists I was attached to was Dr Andre Strydom, I was so enthused by the placement I thought I would ask him if he had any research projects I could get involved with. He proposed I did a literature review looking at a question that had been raised by a recent Nature Review they had written: are people with dup-APP more prone to intracerebral haemorrhage than those with Down Syndrome? And if so, why? The subject matter seemed fascinating and with cross over into general medicine.

The process of writing the paper was challenging as the subject matter is complex, but I had a lot of support from Dr Strydom and the other authors’ contributions.

While taking on this project was a lot of additional work on top of my MBBS it was absolutely worth it. I got exposure to research in a really exciting area of psychiatry, improved my academic writing skills and got to explore this fascinating question in a lot of depth.”

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