Huntington’s disease starts in childhood

The inherited gene that leads to Huntington’s disease has been found to affect brain development from an early age, even though most people don’t develop symptoms of the until they’re between thirty and fifty.

Cardiff University reports the findings of the study, by its scientists and colleagues from University of Erlangen-Nuremberg and Lund University, which looked at brain function in mice, could help researchers to develop new treatments in the future that would be given from a young age, to delay the onset of the disease.

Huntington’s disease is caused by inheriting a faulty gene, which leads to the production of a toxic protein called mutant huntingtin. Mutant huntingtin protein slowly poisons specific groups of brain cells, leading to gradual dysfunction and decline in motor skills, cognitive abilities and behaviour over a twenty year period. Huntington’s disease ultimately leads to people needing twenty four hour nursing care and is fatal.

Dr Florian Siebzehnrubl, from Cardiff University, said “There is still no known cure for Huntington’s, so it is vital that we gain an understanding of the processes happening in the brain throughout a lifetime, so that we can develop effective treatments. Our new research gives us a better understanding of the point at which the mutant gene begins to influence the brain, and this will provide further detail that can allow us to develop potential treatments for this fatal disease that could be given from a younger age before people become symptomatic.”

It’s thought Huntington’s disease affects between one in ten thousand and one in twenty thousand people and the condition affects men and women equally. In addition to there being no cure, there is also currently no way of stopping it from progressing, although treatment and support can help reduce some of the problems it causes.

The findings are published in the Proceedings of the National Academy of Sciences of the United States of America.

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