Researchers in the UK have suggested that spontaneous errors or ‘mutations’ in the genetic code could explain cases of dementia that are not inherited. The findings are published in the scientific journal Nature Communications.
Genes are the instructions for making living things and each gene is made up of a portion of DNA code, which holds the information our cells need to make a specific protein. Errors in this code can lead to changes in the make-up of proteins and scientists at the University of Cambridge and Newcastle University set out to understand whether DNA changes could contribute to the build-up of proteins that is characteristic of neurodegenerative diseases like Alzheimer’s.
The researchers extracted DNA from 54 individual brains, including brains from people with Alzheimer’s disease, Parkinson’s disease and dementia with Lewy bodies, and used state-of-the-art DNA sequencing technology to look for changes in the DNA code.
The scientists sequenced 102 genes in the brain cells over 5,000 times and found spontaneous mutations in the DNA code in half of the brains. They also found that these mutations appeared to gather in brain regions. The researchers then used a mathematical technique to estimate the brain-wide impact of these spontaneous mutations and the results suggest that mutations in genes associated with neurodegenerative diseases are likely to be relatively common in the general population.
Dr David Reynolds, Chief Scientific Officer at Alzheimer’s Research UK, said:
“We know the development of dementia is influenced by a complex mix of age, genetics and lifestyle factors. Our genetic makeup can have a huge impact on our health and errors in this DNA code can occur in embryonic development as well as throughout our lives.
“This well-conducted research using state-of-the-art DNA sequencing technology allowed scientists to look closer than ever at the genetic differences between cells in the brain. Although the researchers found DNA errors in genes associated with neurodegenerative diseases, the study was not sufficiently large enough to reveal if or how these errors might directly contribute to the development of a disease like Alzheimer’s.”
“In recent decades, genetic clues have been vital for uncovering new areas of biology to explore in the search for new treatments for diseases like Alzheimer’s. This study provides a valuable platform for further research to continue to unravel the complex role our genes play in the development of the diseases that cause dementia.”