We know that keeping up with the latest Huntington’s disease (HD) research and therapeutics can be challenging and confusing, so we’ve prepared a post that brings together resources from a few key sources to help demystify and simplify the latest developments of the past year!

Despite scientists discovering the gene for Huntington’s Disease (HD) in 1993, it’s still unclear how this gene causes HD. Animals that have been genetically modified to have Huntington’s Disease are the best hope of understanding this disease and finding a cure. An international team of scientists, led by New Zealand’s very own, Professor Russell Snell from the University of Auckland, have been using these sheep to help solve the mystery of HD.

Brain and muscle cells require a ton of energy compared with most other cells, and nearly all that energy is generated by hundreds of “batteries” within each cell, called mitochondria. However, these mitochondria are quite damaged in Huntington’s Disease, which might be caused by mutant huntingtin protein. Thus, one way to treat Huntington’s may be to use a “genetic” strategy to create normal versions of the huntingtin protein, which might improve the mitochondria, leading to more energy for the brain and muscle cells. However, there could be another way we could treat Huntington’s…by using a “metabolic” strategy to improve the mitochondria directly.

Here we share with you some recent work out of the Centre for Brain Research in New Zealand, in partnership with École Polytechnique Fédérale de Lausanne in Switzerland, investigating the role of huntingtin protein (HTT) aggregates in Huntington’s disease (HD).

You might have heard of this thing called Enroll-HD, but don’t really know what it’s all about, what it means to participate, or who you will be seeing at the study clinic. We bring you this blog post written by Auckland-based study coordinator Christina Buchanan on why she loves being part of Enroll-HD and what to expect from your visits to the study centre.

In many people an early indicator of Huntington’s disease are changes to their smell or olfaction. The process of olfaction works through structures in our nose known as the nasal pathway, and in our brain known as the olfactory system. The main proponents to this system are the olfactory bulbs, which are neural structures that receive smell information and send it to other regions of the brain to be processed.

Our genes are made up of DNA. DNA can be thought of as an ‘instruction manual’ to make proteins to build us. However, in Huntington’s disease the DNA ‘instruction manual’ differs and the proteins built may allow for Huntington’s symptoms to present, such as involuntary movement and rigidity. What people may not be as aware of is that epigenetics can also play a role in disease. Epigenetics refers to the factors which can alter the expression of genes. To put this simply, if DNA is the’ instruction manual’, epigenetics can help determine what can be read within the manual.

The combined efforts of researchers from New Zealand, UK, Switzerland, Italy and USA have identified a potential therapeutic candidate for Huntington’s disease: an enzyme called TANK binding kinase 1 (or TBK1 for short).

The cerebellum is a region of the brain involved in coordination, fine-motor movement, posture, and balance, all of which have been shown to be affected in Huntington’s disease. Neurological research of Huntington’s disease has predominantly focused on the basal ganglia and cortical areas in the brain, due to the damage and loss of cell in these regions. The role of the cerebellum in Huntington’s disease is currently unclear, as various studies have produced different findings. A group of New Zealand researchers at the Centre for Brain Research set out to explain the role of the cerebellum in Huntington’s disease, and whether it varies between the motor and mood sub-groups.

We recently shared the news with you that the Genentech/Roche clinical trial of the huntingtin-lowering drug RG6042 is coming to NZ. For information on the NZ arm of the trial head over to our news section. Here we explain the science behind the drug RG6042.

In the last decade, a group of researchers from the University of Auckland’s Centre for Brain Research developed a sheep model for Huntington’s disease. They did this in the hope that it would help to reveal what happens to the brain in the pre-symptomatic stages of the disease.

New Zealand researcher Dr Ailsa McGregor is working to find treatments for Huntington’s disease. Ailsa and her team are currently testing a drug that may be able to ease the symptoms of Huntington’s disease in the early stages.