Alzheimer's breakthrough as scientists find rare gene that protects brain from the disease
The genetic mutation stops damaging plaques forming in the brain
07:11 GMT, 13 July 2012
A protein that protects against Alzheimer's disease has been discovered, opening the door to a new treatment.
Scientists screened the DNA of almost two thousand people and found those with a mutated form of the gene were less likely to develop dementia.
Mimicking this variant with a drug could stop Alzheimer's in its tracks, say neurologists.
Distressing: Scientists have made little progress in developing drugs that inhibit interactions between proteins to treat the degenerative condition
The gene in question is known as APP (amyloid precursor protein) and makes a chemical called amyloid-beta which sticks together in the brain and blocks neurons from communicating with each other.
The onset of the disease has been linked to such clumps which form when fragments of the protein gather together and cause the classic symptoms such as memory loss and speech problems.
Dr Kari Stefansson, chief executive of Icelandic company deCODE Genetics in Reykjavik, and colleagues said the rare mutation results in a 40 percent reduction in the formation of these harmful 'plaques'.
The researchers whose findings are published in Nature also found dementia free elderly people with the variant have better cognitive function between the age of 80 and 100 than those with the normal version.
Brain scan: The red colours are a warning of Alzheimer's Disease while the green shows a normal healthy brain
Mutations in the APP gene have
already been implicated in early-onset Alzheimer's that runs in
families, but had not been linked to the common form of the disease that
occurs in later life.
Stefansson said the research supports previous ideas that interfering
with the gene, which can be achieved with existing drugs, may prevent
Despite almost forty years of research, scientists have made little progress in developing drugs that inhibit interactions between proteins.
This is, in part, because the drug molecules are many times smaller than the proteins, so even if they can attach themselves to the larger molecules they are too small to prevent other proteins binding elsewhere.
The degenerative condition is the most common form of dementia and affects more than 300,000 people in the UK.
It is estimated that it affects on in 14 people over the age of 65. It can be inherited in some cases.
Author Terry Pratchett is a high profile person with the disease.
The condition is caused by parts of the brain wasting away, particularly in the cerebral cortex.
As the grey matter wastes away, clumps of protein, known as ‘plaques’ and ‘tangles’, start to form in the brain. The plaques and tangles start to destroy even more brain cells.
Early symptoms include minor memory problems and saying the right words. Later symptoms include severe confusion and dramatic changes of personality. A sufferer can also experience delusions.
There is no cure though there are some treatment that can slow the disease's progression.
The disease can shorten life-expectancy as sufferers can lose interest in eating and maintaining personal hygiene.
Dr Kari Stefansson said: 'The prevalence of dementia in the Western world in people over the age of 60 has been estimated to be greater than five per cent, about two thirds of which are due to Alzheimer's disease.
'The age-specific prevalence of Alzheimer's disease nearly doubles every five years after age 65, leading to a prevalence of greater than 25 per cent in those over the age of 90.
'We found a coding mutation in the APP gene that protects against Alzheimer's disease and cognitive decline in the elderly without Alzheimer's disease.'