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Rare Disease Could Help Find Cure for Nervous-Neurologic Disorders

by Julia Samuel on December 26, 2016 at 4:13 PM
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Rare Disease Could Help Find Cure for Nervous-Neurologic Disorders

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.

British researchers have discovered a new genetic disease which results in neuro-degeneration and help find treatments for brain ageing conditions, such as Alzheimer's, Huntington's and Parkinson's.

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The study revealed that the disease, ataxia oculomotor apraxia type XRCC1 is caused by a genetic mutation that disrupts the repair of our DNA. In people suffering from the new disease, the speeding up of this key enzyme actually triggers the death of brain cells, the researchers said.

"Discovering this new disease and its cause is a huge step towards developing drug-based therapies for other rare neurodegenerative conditions," said lead author Keith Caldecott, Professor at University of Sussex.
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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.

Source: Medindia
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