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According to a new study, it is thought that only a small proportion of cases of dementia are hereditary, the cause of which is still unknown.
In a study published in Nature Communications, a team of researchers at Cambridge University said it may have found an explanation for the spontaneous errors in our DNA that occur when cells divide and reproduce.
The results suggest that for many people with neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease are at the origin of their embryonic origin condition.
In common neurodegenerative diseases, toxic proteins accumulate in the brain, destroying brain cells and damaging areas of the brain, leading to symptoms such as personality changes, memory loss and loss of control. Only about one in twenty patients has a family history, genetic variants inherited from one or both parents contributing to the risk of disease. The cause of the majority of cases – which is thought to affect up to one in ten people in developed countries – remains a mystery.
The researchers hypothesized that clusters of brain cells containing spontaneous genetic errors could lead to the production of misfolded proteins that could spread throughout the brain, eventually leading to neurodegenerative disease.
To test their hypothesis, the researchers examined 173 tissue samples. The samples came from 54 brains: 14 healthy people, 20 patients with Alzheimer's disease and 20 patients with Lewy body dementia, a common type of dementia that would affect more than 100,000 people in the United Kingdom. United.
The team used a new technique that allowed them to sequence more than 5,000 times 102 genes in brain cells. These include genes known to cause or predispose to common neurodegenerative diseases. They discovered "somatic mutations" (spontaneous rather than inherited errors in DNA) in 27 of the 54 brains, including healthy and diseased brains.
Together, these findings suggest that mutations would have occurred during the developmental phase – as the brain grows and changes again – and that the embryo develops in the uterus.
By combining their results with mathematical modeling, their results suggest that the "islets" of brain cells containing these potentially important mutations are likely to be common in the general population.
The researchers also said that more research was needed to confirm whether mutations were more common in patients with dementia. If it is too early to say whether this research will facilitate diagnosis or treatment, this confirms the approach of pharmaceutical companies trying to develop new treatments for rare genetic forms of neurodegenerative diseases.
(This story has not been changed by Business Standard staff and is generated automatically from a syndicated feed.)
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