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Functional blog
10 Dec 2017

Gene therapy to cure Huntington’s Disease

I am a firm believer of Genes are not our Destiny, yet I still battle with this concept every day in my NHS role with my conventional colleagues. When I hear the headlines of a new ground-breaking therapy that has been trialed and shown to slow down Huntington’s disease…. I am very excited to say the least! This is genetic therapy, modifying our genes and our destiny.

Huntington’s is an incurable degenerative disease caused by a single gene defect that is passed down through families. It damages certain nerve cells in the brain. It is a slowly progressive condition that causes uncontrolled movements (chorea), emotional problems, and cognitive impairment, leading to dementia and early death in most people who develop the condition.

What are genes?

Each cell of the body contains strands of DNA which are made up of chromosomes. Chromosomes are made up of genes. Genes encode proteins, usually enzymes, which are responsible for accelerating chemical reactions in the body, for example an inactive molecule to an active molecule. Therefore when a gene is faulty the protein/enzyme that it encodes is also faulty as a result and the specific chemical reaction does not take place as it should within the cell. Occasionally faulty genes encode faulty proteins that act in a way to damage the cells in the body. The faulty protein in Huntington’s disease is called ‘huntingtin’ which which divides into toxic fragments than can bind to and impede neurons (brain cells). This leads to damage and death of some of the neurons in particular parts of your brain called the basal ganglia and the cortex. It is this damage that leads to the symptoms of Huntington’s disease.

The Breakthrough:

The new trial showed a groundbreaking genetic treatment appears to slow down the illness. The

Ionis-HTTRx is a drug therapy which aims to block production of the faulty huntingtin protein in patients. Composed of a small portion of man-made genetic material called microRNA enters a cell and binds to the messenger molecule carrying the genetic information necessary to produce hunting, marking it for degradation. In effect, it silences the defective huntingtin gene to treat the disease.

This trial was small and composed of only 46 people, but showed very promising results. It shows delivering therapeutic agents of this type is feasible and well tolerated and the treatment has done what it said it would- namely drop the relevant protein (Huntingtin) levels in the CSF (brain fluid).

The Future:

Several pharmaceutical companies are already working to develop gene therapy for people with hemophilia B, atherosclerosis, (heart disease and stroke) venous thromboembolism and the list continues. What a break-through!

The Functional Medicine approach:

This trial confirms what we already know, that we have the ability to silence/activate our genes. The MTHFR and COMT genes are examples of the methylation proteins that are encoded by these genes. When these are faulty, we aim to ‘bypass’ or ‘activate’ them by using food supplement and minerals. Similarly, a less efficient VDR (Vitamin D Receptor) gene means that we can increase our Vitamin D intake to bypass the less effective Vitamin D receptors.

In Functional Medicine, the silencing or activating of our genes is called epigenetics. We do this through environmental and dietary changes.

Epigenetics continues to be researched thoroughly.