Scientists at the University of Sussex in England have discovered a new genetic disease which results in neurodegeneration — the progressive deterioration or death of brain cells. The researchers believe the discovery of this new disease could help increase our understanding of other rare neurodegenerative diseases, and also help develop more targeted treatments for the more common neurodegenerative and brain aging conditions, such as Alzheimer’s, Huntington’s, and Parkinson’s.
Neurodegenerative diseases occur when nerve cells in the brain or peripheral nervous system slowly degrade and ultimately die. At this time, treatments can help relieve some of the mental and physical symptoms, but there is still no cure or way to slow disease progression.
The new disease, called ataxia oculomotor apraxia type XRCC1, is caused by a genetic mutation that disrupts the repair of DNA. Researchers from the University of Sussex’s Genome Damage and Stability Centre (GDSC) discovered that when single strands of DNA are damaged, a genetic mutation in a gene called XRCC1 causes a vital DNA-repairing enzyme in our bodies to over-activate.
The scientists discovered that in this new disease, this key enzyme essentially speeds up, triggering the death of brain cells.
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.