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Fascinating tweet from Canadian Rett

Fascinating research on a gene New technology enables researchers to find ultra-rare mutations in the HD gene, distinct from the one causing HD. A relatively new technology called exome sequencing has identified a few families with novel mutations in their HD genes. These are different than the mutation that causes HD, but allow researchers to better understand the normal role of the HD gene.

Normal HD gene function
The mutation that causes HD instructs brain cells to make an abnormal, mutant protein scientists call huntingtin. We've long known about the many ways mutant huntingtin protein can interfere with cells' normal processes. For example, mutant huntingtin can interfere with brain cells' ability to move cargo from one end of the cell to the other and impair cells' abilities to produce energy.

What we're less sure about is: what exactly is healthy huntingtin supposed to be doing in the cell in the first place, and what happens when it's not around to do its job? (You can read more about the "Hunt for the Function of Huntingtin" here:http://en.hdbuzz.net/221.) Two recent discoveries highlight how healthy huntingtin may play critical roles in the development of our brains and nervous systems, giving us new information to keep in mind as we develop treatments for HD.

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Author: Megan Krench
Source: HD Buzz
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