British researchers have discovered a new genetic genetic disease which results in neuro-degeneration and help find treatments for brain ageing conditions, such as Alzheimer’s, Huntington’s and Parkinson’s.
The study revealed that the disease — ataxia oculomotor apraxia type XRCC1 — is caused by a genetic mutation that disrupts the repair of our DNA.
The study showed that when single strands of our 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 new disease, the speeding up of this key enzyme actually triggers the death of brain cells, the researchers said.
“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.
Single strand breaks are one of the most common types of DNA damage and the researchers believe it’s possible the discovery of this new genetic disease could be important for scientists researching other rare DNA repair related diseases.