Huntingtons Disease | Stem Cells Australia

Condition

Huntington’s Disease

Huntington’s Disease (HD) is a genetically inherited disease that is passed from parent to child and causes the breakdown of nerve cells in the brain. The cells that are particularly affected in HD are called ‘medium spiny neurons’ (MSNs). MSNs receive and coordinate information from other cells in the brain to control movement, emotion, and intellectual processes. The destruction of MSNs leads to emotional changes, mental decline and impaired movement.



The genetic fault that causes this disease occurs in the gene that holds the code for a protein called ‘Huntingtin’. The defective gene causes the body to make a faulty, toxic version of the Huntingtin protein, and this eventually results in the loss of MSNs and other neurons. 

Symptoms of HD usually appear in patients between the ages of 35-50, but can start earlier.

Currently, there are no treatments for Huntington’s disease.

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How could stem cells help?

Stem cells have been an invaluable tool for studying many aspects of HD, from how HD causes MSN cell death to testing new treatments. Here are a few ways stem cells may be of help:

Understanding the disease

Researchers can use certain kinds of stem cells to grow the MSN cells. These MSN cells can also be made to carry the genetic fault that causes HD. These cells can be used in research to uncover exactly how the disease works and what function(s) the normal gene has in the healthy brain.

Developing new drugs

MSN cells grown from stem cells that carry the faulty gene can be used to rapidly test new HD drugs, gene therapies, and other treatments much faster than traditional approaches.

Replacing lost cells

In the future, scientists hope to be able to use stem cells to grow new, healthy MSNs that can be transplanted into patients to replace cells destroyed by the disease. However, transplanting cells into HD patients is not going to be easy due the large number of nerves affected in the brain.

What are the challenges?

As the genetic fault that causes HD is still not fully understood, developing a treatment is difficult. The Huntingtin gene makes a protein important for neurons, but scientists are still trying to understand what this protein does in cells and how the genetic fault can cause MSNs to die.

Currently there are no approved stem cell treatments for HD. It is still unknown whether lab-grown MSNs are similar to the ones found in our brains, and whether lab-grown MSNs are able to fit into the complex networks of cells found in the brain. Successful stem cell treatments will need to distribute cells to damaged areas throughout the brain, make the correct types of neurons and other brain cells, correctly ‘wire’ new neurons into existing neuron networks, and, above all, be safe (e.g. not cause cancer or other complications).

Where can I find out more about clinical trials?

There are a number of sites that list clinical trials, including the clinicaltrials.gov registry. Please note that the scientific justification for the intervention and the credentials of those offering the service may have NOT been fully evaluated by this registry and may not be a legitimate clinical trial. Please consult with your medical specialist or general practitioner as they are best placed to advise you on whether you would be a good candidate for a trial given your circumstances.

Please note: Although some clinics may claim to already offer stem cell treatments for HD, there are serious questions about the scientific rationale and the safety of many of these approaches. Currently, there are no proven, safe and effective stem cell treatment for this condition available in Australia, the EU, US or elsewhere.

Some of this material has been adapted from factsheets produced by EuroStemCell.org under a Creative Commons license.
Where else can I go to find out more?

Huntington's Disease: Progress and promise in Stem Cell Research

California Institute for Regenerative Medicine

Watch video

Studying Huntington's disease using stem cells

EuroStemCell

Watch video

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