Mouse Models Prove Success of Gene Therapy for the Treatment of Huntington’s Disease

Research has recently been published in Nature Communications that shows the success of a new gene therapy in the treatment of Huntington’s Disease. This therapy, an adeno-associated virus-based gene therapy, was tested in mouse models of Huntington’s disease. The study showed an improvement in symptoms and an increased lifespan. Researchers hope that this gene therapy will one day be able to better the lives of those with Huntington’s disease.

About Huntington’s Disease

Huntington’s disease is a progressive, neurological condition that sees the deterioration of the brain. It causes the loss of mental and physical functions. This disease is very rare, affecting three to seven of every 100,000 people. It tends to affect those of European ancestry, with diagnosis typically occurring from age 30 to 40.

The HTT gene is mutated in those with this condition, and it creates the instructions for the protein huntingtin. The exact purpose of this protein is unknown, but doctors believe that it is involved in the health of neurons. It accumulates in long chains due to the mutation and it will then bind to neurons which lose function and die. This gene is inherited in an autosomal dominant pattern, meaning only one parent has to pass down the mutated gene for a child to be affected.

Huntington’s symptoms fall into one of three categories: emotional issues, cognitive decline, or uncontrolled motor symptoms. The first form of symptoms may manifest as personality changes, mood swings, anxiety, depression, and impulsive behavior. Cognitive decline sees effects such as poor decision-making, forgetfulness, and issues with learning and retaining new information. The last category includes symptoms like twitching, shrugging, and issues with walking, coordination, and swallowing. Chorea, or uncontrolled movements, is one of the most common effects.

Genetic testing is the major method used to diagnose this disease, as people are typically aware that Huntington’s runs in their family. Once a diagnosis is obtained and symptoms begin, treatment is symptomatic. Anti-psychotic drugs or dopamine-depleting drugs are used to suppress chorea. Doctors may also prescribe anti-depressants, neuroleptics, and antiepileptic drugs.

About the Gene Therapy

The adeno-associated virus-based gene therapy was developed by NeuExcell Therapeutics, a gene therapy company that works with neurodegenerative diseases. This therapy is intended to create functioning neurons. It does so through targeting a specific place on the brain or spinal cord with neural transcriptions, which then stimulates the regeneration of neurons and repair of brain tissue. Essentially astrocytes, a type of glial cell, are transformed into working neurons.

This gene therapy was tested in animal models of Huntington’s disease. The mice that were treated with it responded well; symptoms improved and lifespan was extended. Motor skills and rate of survival both increased. These results are very promising, especially at such an early stage of development.

Researchers hope that these results continue, as this therapy has the potential to treat those with Huntington’s and other neurodegenerative diseases. Those affected by ALS, Parkinson’s disease, and Alzheimer’s disease may all experience the benefits of this gene therapy.

Find the source article here.

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