The genetic mutation associated with Huntington’s disease is not stable, suggesting potential routes for intervention, British researchers revealed today.
The mutation tends to lengthen when passed through generations – but may also lengthen during an individual’s lifetime, researchers at Glasgow University and University College London report.
The disease is caused by repeats of CAG DNA in the huntingtin gene – and these grow during the lifetime of affected people.
Scientists found that there were also interruptions of CAA DNA in these repeated – and that these slowed down the growth of repeats, delaying onset of disease. Affected patients usually have 40 or more CAG repeats whilst unaffected people have fewer than 30.
The findings come from an analysis of the DNA of two large groups of individuals carrying the mutation, reported in EBioMedicine.
Researcher Professor Darren Monckton, from Glasgow, said: “These findings offer us further insights into the mechanisms of Huntington’s disease – how it develops, what causes it to appear earlier and progress more rapidly.
“Based on our research, treatments aimed at stopping or slowing the rate at which the number of CAG repeats grow could be beneficial. Importantly, the DNA repair genes that have been identified as modifying disease severity, represent novel drug targets for Huntington’s disease.”
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington’s disease clinical outcomes. EBioMedicine 10 October 2019
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