The Fertility Show, London, 1-3 November 2019
Page URL: https://www.bionews.org.uk/page_139162

Spontaneous DNA errors may lead to dementia

22 October 2018
Appeared in BioNews 972

Many cases of dementia could be caused by non-inherited, spontaneous DNA mutations early in prenatal life, a new study suggests.

Only one in 20 cases of dementia happens in patients with a family history of the condition. What causes the remaining majority of cases has been difficult to pin down. Research now suggests mutations arising during gestation could account for some of these cases. 

'These spelling errors arise in our DNA as cells divide, and could explain why so many people develop diseases such as dementia when the individual has no family history,' said Professor Patrick Chinnery from the Medical Research Council's Mitochondrial Biology Unit and the Department of Clinical Neurosciences at the University of Cambridge, and an author of the study.

The study, published in Nature Communications, investigated tissue from a total of 54 individuals, including 14 healthy controls, 20 with Alzheimer's disease and 20 with Lewy body dementia. The researchers investigated 102 genes known to be associated with neurodegenerative disease and found non-inherited DNA errors (somatic mutations) in 27 of the 54 tissue samples.

However, the study did not investigate whether spontaneous DNA errors are more common in individuals with neurodegenerative disease compared with healthy individuals. The results from the study cannot currently be used to aid diagnosis or treatment. However, they may inform further research into treatments targeting the mechanisms underlying neurodegenerative diseases. 

Dr David Reynolds, chief scientific officer at Alzheimer's Research UK who was not involved with the research, said the study was of high quality, but emphasised that it was not large enough to draw conclusions about whether somatic mutations directly contribute to development of neurodegenerative disease.

'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,' Dr Reynolds told Newsweek.

'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.'

SOURCES & REFERENCES
High prevalence of focal and multi-focal somatic genetic variants in the human brain
Nature Communications |  15 October 2018
Many cases of dementia could be influence by DNA errors
Newsweek |  16 October 2018
Many cases of dementia may arise from non-inherited DNA 'spelling mistakes'
University of Cambridge |  15 October 2018
RELATED ARTICLES FROM THE BIONEWS ARCHIVE
29 October 2018 - by Martha Henriques 
A pattern of epigenetic alteration of genes involved in Alzheimer's disease has been discovered...
27 March 2017 - by Julianna Photopoulos 
A genetic test based on 31 markers could be used to predict at what age an individual is likely to develop Alzheimer’s disease...
11 July 2016 - by Sarah Gregory 
Researchers looking at multiple genes have developed risk scores that could identify those most likely to develop Alzheimer's disease in later life...
14 September 2015 - by Chris Hardy 
A blood test designed to assess how well somebody is ageing could be used to predict whether or not they are likely to develop certain illnesses, like Alzheimer's disease...
16 February 2015 - by Nina Chohan 
Scientists have shown for the first time that whole-genome sequencing (WGS) in IVF embryos can detect 'de novo' mutations...
HAVE YOUR SAY
Log in to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions


Syndicate this story - click here to enquire about using this story.