A 47-year-old Canadian woman, who had been having difficulty walking and balancing since she was 28, was found to have a new genetic disease after 10 known conditions were ruled out, according to a paper in the journal Nature by an international team of researchers.
The disease causes an over-reaction by the body’s natural repair system. An enzyme, known as PARP1, goes into over-drive, ultimately causing the deaths of brain cells.
It is believed this process could also be involved in the death of cells in other forms of dementia and possibly even the ageing process.
Professor Keith Caldecott, of Sussex University, who led the research, said: “Discovering this new disease and its cause is a huge step towards developing drug-based therapies for other rare neurodegenerative conditions.
“Drugs which target this key DNA-repairing enzyme in the right way could prove vital for treating people suffering from diseases caused by the over-activation [of the enzyme]. It is now crucial we determine what diseases these are.
“More research needs to be done, but it’s also possible the cause of this newly discovered condition could contribute to the death of nerve cells in people suffering from diseases such as, Alzheimer’s, Huntington’s and Parkinson’s.”
In experiments, the researchers were able to shut down the out-of-control repair process, which they likened to a flashing light that runs down the cell’s batteries, using genetic techniques. Even though the DNA was still damaged, the cells did not die
Professor Caldecott told the Independent that the link to other diseases and “potentially even normal ageing” was “speculative”.
But he said they were now beginning the search for drugs that could achieve the same thing as the genetic techniques used in the lab, but could also be given as a treatment to patients.
When they discovered the new disease, Professor Caldecott said: “It was stunning, really exciting.
“If we turn that light off, that seems to take away all of the pathology, the cell death.
“Now what we need to do is turn that light off using drugs instead of genetically.”
There is no treatment for the Canadian woman whose condition is expected to get progressively worse.
However, despite her problems with balance and motor skills, she is otherwise healthy.
She has been advised to avoid things that cause damage to DNA, such as cigarette smoke, car exhausts and other fossil fuel emissions, X-rays and some forms of cancer treatment should that become necessary.
Dr Doug Brown, director of research and development at the Alzheimer’s Society said: “This research provides an insight into DNA damage and repair in the brain.
“Researchers found that a change in a gene important for DNA repair led to problems with controlling the body’s movement.
“However at this stage of research it’s not clear if the findings from this rare condition affecting movement will be relevant for people with dementia.
“The vast majority of cases of dementia are not inherited. Evidence shows that dementia is caused by a complex interplay of genetics, environmental and lifestyle factors. Further research into each of these factors will help us to better understand why people develop the condition and help us to find effective treatments.”