A scientist whose major breakthroughs have emerged from studying the brains of Irish families says we are only five to 10 years away from a cure for Alzheimer’s disease.
In a recent interview with the Irish Times, Professor Tim Lynch, currently with the Dublin Neurological Institute at the Mater Misericordiae University Hospital, recounted the discovery he made while working in New York almost 20 years ago, which changed the course of his research.
In 1994, Lynch was part of a team studying frontotemporal dementia in an Irish American family at Columbia-Presbyterian Medical Center in New York. The team discovered that the mutation of the tau protein is responsible for that particular kind of dementia, which occurs in the brain’s frontal lobes (behind your forehead) or temporal lobes (behind your ears). One in five cases of dementia is caused by frontotemporal dementia, which is particularly devastating as it robs people of their personalities.
Lynch and his team were successfully able to predict where in the stem loop of the tau gene the mutations would occur over time.
According to the Irish Times, “This discovery changed the science and direction of dementia research across the globe, including work on Alzheimer’s disease, because the tau protein is also abnormal in the brains of Alzheimer patients.”
Until two years ago, all of their predictions regarding the locations of the mutations had been proven correct except for one.
A 44-year-old farmer with a family history of neurodegenerative disease, which had been diagnosed as Alzheimer’s, came to the Dublin Neurological Institute, where Lynch, back in Ireland by then, was working.
He was suffering from short-term memory loss and was experiencing a number of unsettling personality changes including apathy and impulsivity.
As Lynch told the Irish Times, “The patient had a family history of neurodegenerative diseases that had been previously labeled as Alzheimer’s but the clinical pattern was peculiar.”
“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,” he added.
As it turned out, the very tau mutation Lynch had been unable to locate two decades earlier was the mutation causing brain degeneration in this family.
“The result of this research will be used to bring new awareness to this particular field of neurology and result in new interest and funding for the development of much-needed novel treatments,” he said.
He expressed confidence that a cure for dementia is on the hear horizon. “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.”
Interestingly, he also noted that Ireland is a particularly ideal base for studying neurological disorders because the population has largely remained genetically homogenous and the typically large size of Irish families makes it possible to study the genetic factors behind brain conditions.
An article about the tau mutation by Lynch and his colleagues appeared in the recent issue of the Oxford journal “Brain.”
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