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Dr John Kwok and colleagues from Neuroscience Research Australia have discovered a mutant gene that causes abnormal proteins to build up in the brains of people with frontotemporal dementia, a disease that affects people in their 50s and 60s.
Common psychiatric drugs, such as haloperidol, used to treat schizophrenia, are known to act on this gene.
“Our hope is that these drugs will slow the progression of the disease,” says Dr Kwok.
Frontotemporal dementia (FTD) is a type of dementia that affects personality, behaviour and language.
There is currently no treatment to slow or stop this disease.
Like in Alzheimer’s disease, people with FTD develop unusual deposits of protein in their brains.
This protein ‘clumps’ are linked to disease symptoms and brain cell death. Until now, we have not understood how these clumps developed.
By scanning DNA samples from a large Australian family with hereditary FTD, Dr Kwok identified the gene (called SIGMAR1) responsible for the formation of these clumps. A further 26 families in Australia and 158 families in Europe were also screened.
“Identifying this gene gives us greater insight into how brain degeneration occurs in dementia,” says Dr Kwok.
Haloperidol is already known to act on the SIGMAR1 gene. Dr Kwok is currently conducting tests in mice to see if this and other drugs can stop the abnormal build up of protein in the brain and prevent the death of brain cells in dementia.
Preliminary work with haloperidol suggests that a dose 10-100 times less than that used for treating psychosis may be effective, reducing the risk of side effects.
“The exciting part about our findings is that an effective treatment for this form of dementia might be almost within our grasp,” says Dr Kwok.
“Because these drugs are already approved for use in humans, we could be looking at a treatment for frontotemporal dementia becoming available in just a few short years.”
The study was published in Annals of Neurology.
Source: Neuroscince Research Australia
