Aussie researchers help discover crucial genetic link in degenerative brain condition

Source: Xinhua| 2018-08-11 11:53:55|Editor: mym
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SYDNEY, Aug. 11 (Xinhua) -- A crucial link has been found between a genetic mutation regulating protein-producing brain cells and neurological degeneration, pointing to major disease treatment, according to latest Australian-linked research.

The medical breakthrough is related to cerebellar ataxias, which are caused by damage to the cerebellum, the part of the brain that controls motor function.

"These are debilitating conditions that get worse over time, causing symptoms including poor coordination, unsteady walking, difficulty speaking and swallowing, and difficulty performing fine motor skills such as buttoning a shirt," University of Queensland researcher Dr Marija Kojic, who co-led the study, said in a statement late Friday.

"Now we have, for the first time, found a link between ataxias and a mutation of the Elongator gene, which regulates how our brain cells produce proteins."

The findings showed that the mutation slows production of the proteins that human neurons need to function, causing them to gradually degenerate.

The researchers also uncovered a link between the inflammation of brain cells and brain degeneration, including ataxias, said study co-leader Professor Brandon Wainwright, also from the university.

Blocking the inflammation slowed the rate at which the cells were dying, he said.

"This effect occurs across a broad range of neuro-degenerative conditions, such as Alzheimers' disease, Parkinson's disease and motor neurone disease, which has profound implications for the treatment of these diseases," said Wainwright, whose team's findings were published in scientific journal Nature Communications.

"We may not be able to stop this neurological degeneration but if we can slow it down -- for example, so a disease takes 20 years to progress, rather than 10 -- this could have a huge impact on the health and quality of life of people living with these conditions."

Cerebellar ataxias are "terrible diseases with no cure" but understanding how genes play a role in the development of the condition "is a step forward in the journey towards finding an effective treatment", said Wainwright.