Galway scientists in genetic disease discovery

LORNA SIGGINS, Western Correspondent

RESEARCHERS AT National University of Ireland, Galway (NUIG) say they have made a “significant” discovery in the treatment of Huntington’s disease, an incurable inherited condition which affects the brain and muscular functions.

The findings, which were published yesterday in international journal PLoS Biology, suggest that inhibiting specific enzymes could slow down progression of the disease.

Huntington’s affects more than 100,000 people across the globe, with up to 500 people diagnosed with the condition in Ireland and more than 2,000 at risk of contracting it.

One of the best-known sufferers was American folk musician Woody Guthrie, who was initially believed to have either alcoholism or schizophrenia before it was confirmed that he had inherited Huntington’s from his mother. He died from the condition in 1967.

US-based scientist Michael Conneally, who is originally from Galway, is credited with identifying the gene in 1993.

Currently the available treatments are designed to manage symptoms of the condition, which can involve uncontrolled movement, emotional disturbance and severe mental deterioration.

The new research at the Galway university notes that specific enzymes called histone deacetylase complexes (HDACs) are “positive agents” in cell mutation which is a major factor in Huntington’s disease.

When these enzymes are active, they are believed to make the condition more severe. The NUIG team, led by Prof Robert Lahue of the Centre for Chromosome Biology, has found the risk of further mutation can be reduced by blocking the enzymes with experimental drugs.

“Our discovery suggests that inhibiting HDAC function slows down the mutation process, and thereby could slow disease progression,” Prof Lahue has said.

Pinpointing the specific enzymes for “selective inhibition” was a key finding in the research, he said.

The new inhibitors are currently being tested in several laboratories in the US, and Prof Lahue and his team hope to work with them to evaluate their effects.

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