Study reveals gene link to brain disease

Scientists have linked a rare gene mutation with protecting a woman from developing symptoms associated with Alzheimer’s disease.

Researchers say it could be the first known candidate for a gene that has the potential to be used in the development of interventions to halt the progression of the disease.

Some people who carry mutations in genes known to cause early onset Alzheimer’s disease do not show signs of the condition until a very old age.

Researchers found one such person in a study of 1,200 individuals in Colombia for whom Alzheimer’s disease

“Thegenehas beenshown tocause Alzheimer’s”

is extremely likely to develop owing to genetic predisposition.

The woman, from a large extended family, did not develop mild cognitive impairment until her seventies – nearly three decades after the typical age of onset.

Like her relatives who showed signs of dementia in their forties, the patient carried the E280A mutation in a gene called Presenilin 1 (PSEN1).

This gene has been shown to cause early onset A l z h e i m e r ’s disease, according to the Nature Medicine journal.

Analysis showed the woman had a high degree of brain amyloid pathology, a hallmark of the disease, but did not present with symptoms associated with it.

Dr Fiona Carragher, chief policy and research officer of the Alzheimer’s Society, said: “This breakthrough opens up a promising avenue of Alzheimer’s research, although further studies with larger numbers are needed.”