What is Huntington's disease and can stem cells help?

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Huntington's Disease (HD) is a hereditary, degenerative brain disorder for which there is currently no cure.  

Huntington's disease is caused by a faulty gene on chromosome 4. This gene, which produces a protein called Huntingtin, was discovered in 1993. In some way - which is not yet fully understood - the faulty gene leads to damage of nerve cells in areas of the brain including the basal ganglia and cerebral cortex.  This leads to gradual physical, mental and emotional changes.

Each child of a parent with Huntington's disease has a 50:50 probability of inheriting the faulty gene. Anyone who inherits the faulty gene will, at some stage, develop the disease. It typically becomes noticeable in middle age.

Stem cells could be useful in the quest to develop treatments for Huntington's disease on a number of fronts:

  1. Stem cells could be used to study HD, as a supplement to animal models of the disease.  For example, cell lines that carry the faulty gene have been generated from induced pluripotent stem cells, providing a new model to study the development of Huntington's disease in the laboratory. These cell lines could also be used to screen for and test potential new treatments.  For more information about the creation of disease-specific cell lines, see our iPS cells fact sheet.
  2. It may be possible to stimulate the brain's own production of stem cells to help replace cells affected by the disease.
  3. Stem cells could be introduced into the brain with the hope that they would replace dead and dysfunctional cells - either as a primary treatment or  to restore brain cells lost in Huntington's disease following treatment(s) to halt disease progression.  While this is a promising avenue of research, more work needs to be done to understand the factors that control the differentiation, survival, and maturation of stem cells in a brain affected by HD before this kind of therapy can be transferred to the clinic.

Read more: our fact sheet Huntington's Disease: how could stem cells help?

Relevant links
European Huntington's Disease Network - a platform for professionals and people affected by HD and their relatives to facilitate working together throughout Europe
NIH page on Huntington's disease
Huntington's Disease Society of America
Hereditary Disease Foundation
HOPES: A guide to the science of Huntington's disease - a student-run project at Stanford University dedicated to making scientific information about Huntington's disease more readily accessible to patients and the public
Summary of Huntington's Disease research - provided by NCBI (the National Center for Biotechnology Information) - more technical

Last updated: 
20 Dec 2010