Errors in the genome and their role in dementia

Errors in the genome and their role in dementia

A project led by renowned neurologist Professor Patrick Chinnery, of the Cambridge BRC, aims to unravel the role in dementia of ‘somatic mutations’ in the brain, defined as changes in the genetic code that are not inherited.
Elderly patient with smiling carer

Sadly it’s not news to say that the burden of dementia is increasing worldwide and for most patients we do not understand the cause of their illness. If the causes were better understood, then we could move towards the development of effective treatments. This challenge is at the heart of a project funded by the Evelyn Trust and being led by renowned neurologist Professor Patrick Chinnery, of the Cambridge Biomedical Research Centre.

Patrick is working to unravel the role in dementia of ‘somatic mutations’ in the brain, defined as changes in the genetic code that are not inherited. Patrick explains,

“We know that some types of dementia are ‘inherited’ as faulty copies of particular genes are passed from parents to children. This is true for some patients with Alzheimer’s, for example. It’s logical then that changes to the genetic code that are not inherited may also cause these conditions. 

“When cells divide and replicate their DNA, this is not a perfect process and ‘errors’ can occur. We think that these somatic mutations may well have some role in causing dementia, particularly those errors in the genome that happen when the cells are dividing at a tremendous rate in the womb as the fetal brain is developing.

“Recent vast improvements in the technology are now allowing us to examine the genetic code in a way that has never been possible before. We are starting with certain genes that we know have been linked to dementia, but ultimately we would like to look at the whole genome, which is an enormous research task.”

This research is being carried out on brain samples, using tissue from the Cambridge Brain Bank, also from patients suffering with progressive primary aphasia or frontotemporal dementia and a number of healthy control samples. 

If the research finds links between somatic mutations and dementia, then this would be a promising start and should ultimately enable earlier diagnoses and intervention and the ‘holy grail’ of effective treatments. This is vital, as early intervention has been shown to be more effective in alleviating some of the symptoms of dementia and slowing its progression.

“It’s fantastic that we can run this research in Cambridge,” adds Patrick. “If we make the breakthrough that we hope for, Cambridge and the UK will benefit enormously from this work. It has the potential long term to help patients worldwide suffering from distressing dementia conditions, but also from other degenerative diseases, including Parkinson’s and Motor Neurone disease.

“Support from the Evelyn Trust has been critical to ‘get this show on the road’ and we are working on further funding applications to ensure we can take this work forward to deliver its full potential.”

There’s more detail on the work of Professor Patrick Chinnery and the Cambridge Neuroscience community at https://www.neuroscience.cam.ac.uk/directory/profile.php?pfc25

 

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