A new study has found that the first person to develop the rare and debilitating form of Alzheimer’s disease was born with it, and the test came to be known as “Cake Pan Syndrome”.
“The study confirms the existence of a gene mutation that affects the brain in people who have Alzheimer’s and it can also explain why some people who develop it are at higher risk of developing the disease, as it has been found to be passed on to their children,” said Dr. James McEwen from the University of Queensland, Australia.
“We believe this is because it changes the way that the brain uses sugar, which in turn affects the ability of the brain to repair damage.”
These mutations are also found in some other forms of dementia, and there is strong evidence that these are the ones causing the ‘Cake-pan’ syndrome.
“Cake pan syndrome is one of the rarest forms of the disease and is often associated with a very rare genetic mutation, and although it is rare, it is still a very important issue to investigate.”
McEwen’s research is published in the journal Cell.
This is the first human study of a mutation that alters how the brain functions, and its finding could help identify the most important genetic factors for developing the rare form of the Alzheimer’s brain disease, which affects an estimated 100,000 Australians.
It also found that it was possible to reverse the effect of the mutation in the brain by removing it from the brain and replacing it with a different genetic variation.
The research also shows that some of the mutations could be linked to other disorders, such as schizophrenia and depression, and may also affect the risk of dementia.
Researchers at the University’s School of Medicine, Queensland, examined a population of people from a long list of Australian cities, where they found that a small group of people with the gene mutation had a 40 percent higher risk for developing Alzheimer’s.
The researchers then used the gene mutations to examine people in other ways, looking at the risk for a range of brain diseases.
In total, the team identified 1,092 people who were born with the mutation and had it inherited from them, and then tested them for the risk they had of developing dementia.
Of those people, more than 800 developed dementia, which can affect the way the brain works and lead to memory loss and loss of cognitive function.
McEwan said that these people were “very likely” to develop Alzheimer’s because of the genes that affect the activity of the protein amyloid-beta.
That protein, found in the brains of Alzheimer patients, is believed to play a key role in causing dementia, because it accumulates in the cells of the developing brain.
McE Wan said that this could explain why people who developed Alzheimer’s had a higher risk.
“The research suggests that if you look at people who do not have the mutation, then the other risk factors that could also be associated with dementia are also increased,” he said.
“In other words, it seems to be linked with other diseases that can also be related to amyloids, so it could be a bit like an autoimmune disorder.”
We do know that people who inherit the mutation have a slightly higher risk, so that might be the other way around.
“But what we don’t know yet is how it relates to Alzheimer’s, which is the one form of dementia that has a genetic mutation that’s linked to it.”
A more complete genetic study is being carried out in the UK to understand the link between the mutations, and if it has the same effect, will lead to the possibility of using the gene to identify other people with similar conditions.
Dr. McEwan explained that although the findings from the Australian study are preliminary, the gene variants were not yet known to be associated in other people.
“It’s possible that there are more people who are affected, and that we just don’t have a complete picture yet of what the effect would be,” he explained.
“Hopefully the study will provide us with some clues.”
The Australian research team hope that their findings will help identify people who may be at higher and higher risk and then to develop better treatments.
“This could help us to identify people at higher risks who might benefit from an intervention, or perhaps to find a way of preventing dementia,” said McE Wan.
What you need to know about Alzheimer’s is already out.
Read more:The research was funded by the Queensland Government.
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