An Irish scientist believes a cure for dementia could be “only five or ten years away” following groundbreaking discoveries into the cause of the disease.
Professor Tim Lynch has studied neurology for more than 20 years and back in 1994 he was part of a team at Columbia-Presbyterian Medical Center in New York. They found that a mutation of the tau gene could be responsible for causing dementia.
The team made predictions on where they expected to find mutations in patients within the tau gene stem loop, and where they also thought mutations would not occur.
Over the past 20 years, mutations have been found in all but one of the points in the stem loop that were forecast. This information is crucial for the scientists to understand the process of brain degeneration.
Two years ago, in Dublin, “the loop was closed” according to Lynch.
A 44-year-old farmer was being treated at the Dublin Neurological Institute. He was suffering with short-term memory loss and a changed personality.
Examination of the tau gene within the patient found that mutation had occurred. The man’s siblings were also examined and the same mutation was found.
Lynch said: “I had been waiting for something like this for over 15 years, to complete the circle that started with the initial research in the US.
“The patient had a family history of neurodegenerative diseases that had been previously labelled as Alzheimer’s but the clinical pattern was peculiar.
“Thanks to our previous work and recognition of the importance of the ‘missing tau mutations’ we were in a position to realise that we had found the missing tau mutation and that this gene change was causing the disorder in the family.”
The tau loop mutation causes frontotemporal dementia, which accounts for roughly one in five dementia cases, behind Alzheimer’s and stroke.
Lynch explained: “It’s a particularly nasty form of the disease, one that robs patients of their personality.
“It differs in this respect from Alzheimer’s, where the personality is preserved. It’s also a tricky diagnosis, often mistaken for other issues.
“We can now stop multiple sclerosis in its tracks using biologic agents, and we hope to be doing the same with dementia in the next 10 years.”