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Huntington's Disease Youth Organization

What exactly does the HTT gene do?

HDYO has more information about HD available for young people, parents and professionals on our site:

Q. 1. What exactly does the HTT gene do? (In the simplest of terms please)

  1. Is there a way to extract/redirect this kind of gene?

  2. I have read about possible gene mutations such as the “nonsense mutation”, is this possible to use/ has this been tried on an HTT gene?

I am no scientist and I’m sure many of my questions either don’t make sense or have been already thought of, but I am purely curious about what kind of research has been done as a means to someday cure huntington’s.

Nancie, Young Adult, USA

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A. Hi Nancie,

Great questions!

The HTT gene produces a protein (huntingtin) which is very mildly toxic to all cells, but particularly cells in the nervous system. Human cells are pretty good at dealing with huntingtin but it gradually accumulates and starts damaging cells over many years. That is the basic cause of HD.

The HTT gene can be “shut down”. I think this is the “nonsense mutations” you mention in your email. This means that we can inject something into the brain which sticks on to the HTT gene and stops it making huntingtin.

This has been done successfully in mice and monkeys which carry the HD gene, and we are working towards the first study of this in humans.

I think that the principles behind this study are excellent and it’s an exciting time for HD researchers. There are still plenty of unknowns though. In particular, we don’t know how to get the right amounts of the treatment to the right place at the right time. We also have little idea about any bad effects there may be from the treatment.

HDBuzz is a good place to look for understandable information in this area.

Best wishes

Hugh Rickards