Scientists in Italy discover rare genetic mutation that could be a cause of Alzheimer’s
An Italian family hit hard by Alzheimer’s offers clues about a potential genetic cause of the neurodegenerative disease, a new study has found.
In a family of 15 people in northern Italy, six developed late-onset Alzheimer’s disease – and when researchers ran genetic tests, all six had a rare mutation in a protein-coding gene known as GRIN2C, which is involved with learning and memory formation.
None of the nine healthy people had the mutation.
The study, published in the journal Alzheimer’s Research & Therapy, is the first to identify the GRIN2C mutation as a likely driver of Alzheimer’s disease.
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“It’s very strong genetic evidence, because [it’s] within one family,” Peter Giese, a professor of neurobiology of mental health at King’s College London who was not involved with the study, told Euronews Health.
Alzheimer’s is the most common form of dementia, affecting an estimated 7 million people in Europe. It occurs when nerve cells in the brain die, causing problems with memory, thinking, and behaviour, and tends to get worse over time.
Further testing needed
Researchers believe Alzheimer’s is caused by a combination of several genetic, lifestyle, and environmental factors. Mutations of other genes can increase the risk of getting Alzheimer’s but do not necessarily cause it.
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Only a few rare gene mutations are known to cause Alzheimer’s – and the GRIN2C mutation may be one of them, Giese said.
In the Italian study, researchers ruled out 77 other gene mutations associated with neurodegenerative conditions.
“The general problem with Alzheimer's disease is that we have a very limited understanding of exactly what's happening,” Giese said. “These genetic cases are very useful to get a clearer idea of what could have gone wrong”.
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The next step should be to test the gene mutation in animal or lab studies, he added, in order to determine how exactly it affects the brain and whether any existing medicines can counter the impact.
The study, he said, “gives us a better idea of what kind of treatment one may have to design to fight the disease”.
