Researchers from the University of Sussex in the UK have discovered the disease, ataxia oculomotor apraxia type XRCC1, which is caused by a genetic mutation that disrupts the repair of our DNA.
They found that when single strands of DNA are damaged, a genetic mutation in a gene called XRCC1 causes a vital DNA-repairing enzyme (known as PARP1) in our bodies to over-activate.
In people suffering from the disease, scientists found the speeding up of this key enzyme leads to death of brain cells.
The team also believe the findings could eventually prove significant for researchers looking into more common neurodegenerative and brain ageing conditions, such as Alzheimer's, Huntington's and Parkinson's.
"Discovering this new disease and its cause is a huge step towards developing drug-based therapies for other rare neurodegenerative conditions," Keith Caldecott, professor who led on the study from University of Sussex.
"Drugs which target this key DNA repairing enzyme in the right way, could prove vital for treating people suffering from diseases caused by the over-activation of this protein - it is now crucial we determine what diseases these are," said Caldecott.
The study was published in the journal Nature.
Disclaimer: No Business Standard Journalist was involved in creation of this content
You’ve reached your limit of {{free_limit}} free articles this month.
Subscribe now for unlimited access.
Already subscribed? Log in
Subscribe to read the full story →
Smart Quarterly
₹900
3 Months
₹300/Month
Smart Essential
₹2,700
1 Year
₹225/Month
Super Saver
₹3,900
2 Years
₹162/Month
Renews automatically, cancel anytime
Here’s what’s included in our digital subscription plans
Exclusive premium stories online
Over 30 premium stories daily, handpicked by our editors


Complimentary Access to The New York Times
News, Games, Cooking, Audio, Wirecutter & The Athletic
Business Standard Epaper
Digital replica of our daily newspaper — with options to read, save, and share


Curated Newsletters
Insights on markets, finance, politics, tech, and more delivered to your inbox
Market Analysis & Investment Insights
In-depth market analysis & insights with access to The Smart Investor


Archives
Repository of articles and publications dating back to 1997
Ad-free Reading
Uninterrupted reading experience with no advertisements


Seamless Access Across All Devices
Access Business Standard across devices — mobile, tablet, or PC, via web or app
