Rare Disease Report

Researchers Discover a New Genetic Disease That Causes Neurodegeneration

DECEMBER 21, 2016
Andrew Black
Researchers at the University of Sussex’s Genome Damage and Stability Center have discovered a new neurodegenerative disease named ataxia oculomotor apraxia type XRCC1, that is caused by a genetic mutation that disrupts DNA repair.
The study was published this week in the science journal Nature.
The researchers involved in the study learned that when single strands of our DNA are damaged, a genetic mutation in a gene called XRCC1(a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair) causes PARP1 (a DNA-repairing enzyme) in our bodies, to over-activate and accelerate. The sped up PARP1, actually triggers the death of brain cells.
The new discovery of ataxia oculomotor apraxia type XRCC1 could be important for scientists researching other rare DNA repair related diseases. Single strand breaks are one of the most common types of DNA damage.
The findings could eventually be of significant use for researchers looking into more common neurodegenerative and brain ageing conditions, such as Alzheimer’s, Huntington’s and Parkinson’s as the cause of the newly discovered condition could contribute to the death of nerve cells. 

About ataxia oculomotor apraxia

Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements. They have difficulty moving their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side vision. 


Hoch N, Hanzlikova H, Rulten S, et al. XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia Nature Published online December 21, 2016. DOI:10.1038/nature20790

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