A new hope for Huntington’s disease

A recent discovery by researchers from the University of Washington in St. Louis provides hope for those affected by Huntington’s disease. Results published recently in the journal Neuron indicates that human skin cells can be transformed into brain cells, replacing the ones that are affected by Huntington’s disease. In Australia approximately 8 in every 100,000 people will be diagnosed with Huntington’s disease.

What is Huntington’s disease?  

Huntington’s disease, also called Huntington’s chorea, is a genetic neurodegenerative disorder which leads to the specific parts of an individual’s brain such as the basal ganglia and frontal lobe being lost. These two parts of the brain are responsible for motor movement/control, cognition and lastly personality and emotions. The symptoms and outcomes of this disease are highly problematic as they lead to the individual not being fully capable of caring for themselves. Another aspect of this disease is also the personality changes that may occur.

One of the surprising aspects of Huntington’s disease is that the first symptoms are generally seen around the age of 35-44. This  makes it incredibly hard to control or remove from the population, as sufferers may have children prior to their symptoms or diagnoses and therefore may be passing the genetic abnormalities of HD onto their children. However today there are several genetic tests that can be conducted that will indicate if there is a potential for HD to be present in oneself as well as any developing foetus.

Person with Huntington's disease. Image by Frank Gaillard [CC BY-NC-SA 2.0] from Wikimedia commons.
Person with Huntington’s disease. Image by Frank Gaillard [CC BY-NC-SA 2.0] from Wikimedia commons.
Promising new treatment?

As neurons lose their function or die as a result of HD a prime candidate for treatment is to replace the lost cells in that affected area of the brain. This means of treatment is strongly represented in regenerative biology and also modern medicine. However the generation of these specific neurons or any other cell types has produced a lot of problems. One current way that researchers generate new cells which share the same genome of the patient is through the creation of induced pluripotent stem cells (iPSCs). Despite the very promising research outcomes of the therapeutic properties iPSCs they still have several aspects which mean they may not be the best treatment. This can be due to the difficulty, cost and time of generating them and also the stability and function when introduced back into the tissue.

However new research spearheaded by researcher Matheus Victor from the University of Washington in St. Louis has proven that it is possible to redirect cells into another cell fate without forcing them to first become iPCSs. This would make generating these new cells a lot faster and potentially more stable after they are introduced back into the body.

So how did they do it? Well basically they take the patient’s own skin cells and introduce specific microRNAs that are present in medium spiny neurons (MSNs), the type of neurons lost due to HD. These microRNAs move into the cell and lead to the transcription of genes that lead to MSN development.  The use of microRNAs as a therapeutic treatment is relatively new, but so far shows great potential for the treatment of many diseases. These newly induced MSNs have also been demonstrated in mice to remain stable and functional after 6 months of introduction into the brain.

Neurons. Image by ZEISS Microscopy [CC BY-NC-SA 2.0] from flicker.
Neurons. Image by ZEISS Microscopy [CC BY-NC-SA 2.0] from flicker.
Where do we go from Here?

This is just the first step of a therapeutic treatment for HD. There is also further potential to use other microRNAs to induce other types of neurons so that we can treat other neurodegenerative diseases like Parkison’s disease or Alzheimer’s disease.

3 Responses to “A new hope for Huntington’s disease”

  1. mbarrand says:

    Hope that Wash U gets the funding that they need to continue their awesome work. I visited there last year and it is a pretty amazing campus. Great post

  2. wesleyw says:

    I love the potential that stem cells and cell biology has through the use of induced pluripotent stem cells leaving all the ethical issues out of the equation.

    This will change the way we view many untreatable diseases from a death sentence to something that is very treatable in just a few decades.
    Really great stuff Luke 🙂

  3. nseabra says:

    Very interesting! HD is a very complex neurodegenerative disease, hopefully this potential treatment will be developed into to a effective solution.