Epigenetics Test Can Distinguish Between Huntington’s Disease Stages

huntingtons epigenetics oxford biodynamics

A study run by Oxford BioDynamics suggests that we could predict Huntington’s more easily by analyzing epigenetic changes in the patient’s DNA.

Epigenetics describes the way that the expression of our genes is regulated, often influenced by environmental exposure, without changing the genetic code. Ways of modifying gene expression include attaching chemical groups to DNA strands and changing how DNA is physically packaged inside chromosomes.

Oxford Biodynamics’ EpiSwitch technology assesses the three-dimensional shape of packaged DNA in different diseases, searches for a biomarker known as a ‘chromosome conformation signature’, and then uses these calculations to provide better disease predictions for the clinic.

The company’s study, published in Faculty of 1000 Research, measured these epigenetic differences in blood samples from 10 healthy volunteers and from 10 patients with the neurodegenerative condition Huntington’s disease.  Three patients from the Huntington’s group were at an early stage, yet to show classic motor symptoms such as involuntary jerking and writhing movements.    

The EpiSwitch technology was able to differentiate between the healthy, symptomatic and pre-symptomatic groups, based only on epigenetic differences.

huntington's epigenetics oxford biodynamics chromatin

This [discovery] could provide an ‘early-warning’ indicator for the onset of clinical symptoms, therefore facilitating improved patient care and lifestyle planning,” Alexandre Akoulitchev, the CSO of Oxford BioDynamics, stated.

The company is now looking for partnerships to validate these results in larger amounts of patients. As Huntington’s currently has no cure, EpiSwitch could make it easier to monitor patient disease progression in clinical trials of experimental therapies.

Companies developing Huntington’s therapies include uniQure, which could begin clinical trials of a gene therapy for the disease as early as this year. The Israeli company Anima Biotech is developing drugs that modify the production of proteins linked with the disease, with treatments for Huntington’s still at the early stage. An academic study this year used the popular gene-editing technique CRISPR-Cas9 to correct the mutation responsible for Huntington’s in the lab.

In other areas, Oxford Biodynamics has been using its technology to investigate the epigenetics of the neurological disease amyotrophic lateral sclerosis (ALS). It is also researching its use in breast cancer, and is even hoping to identify epigenetic changes in sports-related concussion


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