Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.

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Articles with the topic: huntingtin-function

Huntington's disease therapeutics conference 2018 - day 3

Huntington's disease therapeutics conference 2018 - day 3

Dr Jeff Carroll on March 02, 2018

Good morning from the final day of the 2018 HD Therapeutics Conference! Two sessions today, the first focused on the protein made from the HD gene. The second includes updates on Huntingtin Lowering Trials from both Wave Life Sciences and Ionis Pharmaceuticals.

An early role for the Huntington's disease gene – but don't believe all the headlines

An early role for the Huntington's disease gene – but don't believe all the headlines

Dr Jeff Carroll on February 27, 2018

New hints are emerging about the normal role of the gene that causes Huntington's disease. A recent report uses cutting edge techniques to study this question in cells growing in the lab. We'll help separate the fascinating new science from some scary-sounding headlines.

New roles for huntingtin: removing a healthy protein to understand its function

New roles for huntingtin: removing a healthy protein to understand its function

Leora Fox on September 26, 2017

Some techniques aimed at lowering mutant huntingtin can also affect the normal form of the protein. With clinical trials underway, it’s all the more important to understand the role of normal huntingtin in the adult brain. Researchers recently inactivated the huntingtin gene in healthy adult mice of different ages. They found that this could cause neurological and behavioral problems. Mice aren’t perfect for modelling human brains, and no huntingtin-lowering drug would remove the protein completely - but this research supports the need for continued caution as we test drugs that lower normal huntingtin.

Huntington's Disease Therapeutics Conference 2017 - Day 1

Huntington's Disease Therapeutics Conference 2017 - Day 1

Dr Jeff Carroll on April 27, 2017

Hi everyone! It's the annual Huntington's Disease Therapeutics Conference in Malta. Around 350 scientists from round the world all working on HD are gathered here to discuss the latest research developments. We're reporting live via twitter and aggregating our updates into daily articles.

Enemy at the gates – huntingtin disrupts nuclear transport

Enemy at the gates – huntingtin disrupts nuclear transport

Tom Peskett on April 21, 2017

Exciting new studies provide evidence that a particular kind of cellular trafficking goes awry in Huntington's Disease. Specifically, researchers have learned that traffic in and out of the cells control center - the nucleus - breaks down in HD. These findings open up new avenues for HD research.

Huntingtin grabs a hammer: DNA repair in HD

Huntingtin grabs a hammer: DNA repair in HD

Leora Fox on February 22, 2017

DNA damage is a hot topic in HD – and new research offers an intriguing explanation. Canadian researchers have uncovered a potential role for huntingtin in the repair of DNA. They speculate that the normal protein is recruited to the nucleus to provide a supporting scaffold for a construction crew of DNA repair proteins. Mutant huntingtin can commute to the job, but can’t perform.

The benefits of migration, highlighted in Huntington's disease

The benefits of migration, highlighted in Huntington's disease

Dr Michael Flower on February 10, 2017

Huntingtin, the protein responsible for Huntington’s disease, is fundamentally important for fetuses to develop in the womb, but we don’t know yet exactly what part it plays in this intricate process. Normally, neurons start life deep within the developing brain, migrate out to the surface and then make a network of connections with others, but Sandrine Humbert’s group showed that those without huntingtin get stuck, never making it to where they need to go. Neurons with mutated huntingtin are no better than those that lack it completely. However, reintroducing normal huntingtin, or the proteins through which it acts, allows neurons to migrate normally again, offering tantalising new ways to treat Huntington’s disease.

A powerful message: does a toxic RNA message molecule cause harm in Huntington's disease?

A powerful message: does a toxic RNA message molecule cause harm in Huntington's disease?

Dr Jeff Carroll on December 30, 2016

Researchers have long believed that the Huntington's disease gene causes problems by telling cells to make a harmful protein. Intriguing new animal work from researchers in Spain suggests we might want to look at more than one suspect to completely fix the problems caused by the HD mutation.

Ultra-rare mutations highlight the importance of the HD gene in brain development

Ultra-rare mutations highlight the importance of the HD gene in brain development

Megan Krench on August 29, 2016

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.