Huntington’s disease is a rare hereditary neurodegenerative pathology that causes progressive degradation of brain cells. Its symptoms, which often begin between the ages of 30 and 50, affect the motor and cognitive abilities of patients, and no current treatment can stop its progression. However, a study offers new hope: researchers have indeed identified an enzyme, GSTO2, which could play a central role in triggering the disease and pave the way for early treatments.
A devastating pathology
The Huntington’s disease is an inherited and incurable neurodegenerative disorder that primarily affects the brain. Caused by a HTT gene mutationthis pathology leads to a progressive degradation of brain cells which causes motor, cognitive and psychological disorders in patients. This disease affects around five to ten people in every 100,000 worldwide, but it has a devastating impact on the lives of those affected and their loved ones.
The particularity of Huntington’s disease lies in its genetic transmission : a parent with the HTT mutation has a 50% chance of transmitting the disease to each of their children. This characteristic makes it a feared pathology, because it often affects several generations of the same family.
In detail, the genetic mutation causes an abnormal repetition of sequences in the HTT gene, which leads to the production of a altered form of the huntingtin protein. This defective protein accumulates and then harms the proper functioning of neurons, especially in a region of the brain called the striatum.
The first symptoms of the disease generally appear between the ages of 30 and 50. Initially, patients experience difficulty concentrating, mild memory loss, and mood changes. Gradually, motor disorders appear, particularly in the form of involuntary jerky movements called chorea which affect coordination and the ability to perform daily movements. Over the years, Huntington’s disease causes severe physical and mental decline that gradually leads to a loss of independence and, ultimately, to the patient’s death.
To date, no treatment does not slow or stop the progression of the disease. Available approaches, mainly medications and supportive therapies, only aim to alleviate certain symptoms such as involuntary movements or psychiatric disorders. This lack of a curative solution makes scientific research crucial for patients and their families who impatiently await advances capable of providing real hope for treatment, which brings us back to this breakthrough.
A surprising discovery: the GSTO2 enzyme involved
Researchers at the Center for Computational Quantum Physics (CCQ) have a key element in the early onset of Huntington’s disease: an enzyme called GSTO2. Concretely, they observed that GSTO2 appears at high levels in the brain before symptoms first appear of Huntington’s disease. This suggests that this enzyme could play a role in its triggering.
To test the involvement of GSTO2, the researchers then conducted experiments on mice genetically modified to develop the disease. They then discovered that GSTO2 is indeed involved to the extent that it seems to have an aggravating effect. Its increase in fact stimulates a production excessive de dopaminewhich accelerates the breakdown of neuronal cells and worsens symptoms. Conversely, blocking this enzyme significantly slows the progression of motor and cognitive disorders.
Analysis of brain tissue from human patients confirmed this trend, reinforcing the idea that GSTO2 could be a promising therapeutic target to counter Huntington’s disease.
A new therapeutic approach
One of the main challenges in Huntington’s disease research has always been finding ways to intervene before symptoms appear. Current treatments only manage to attenuate the effects, but cannot slow down or reverse the degradation process. This discovery therefore offers an encouraging avenue. By blocking GSTO2, it would potentially be possible to avoid the overproduction of dopamine in the striatum and therefore preserve the neurons affected by the disease.
Researchers are now planning to develop drugs capable of inhibiting GSTO2. This approach could slow or even prevent the progression of Huntington’s disease. Of course, more research is needed to confirm the role of this enzyme in triggering the disease, but the current results offer hope for a major breakthrough.
