New insights into Huntington disease: looking at a neurodegenerative disorder from a neurodevelopmental perspective

Dr. Sandrine Humbert from the Grenoble Institute of Neurosciences will present revolutionary work done on Huntington’s disease from 5:30 to 6:30 pm on July 10, 2022, at the FENS 2022 Forum.

Huntington disease is a rare genetic disorder affecting 5 to 10 people per 100,000 people in Europe. The degenerative nature of the disorder causes psychiatric, cognitive, and motor symptoms that include depression, anxiety, and obsessive-compulsive tendencies, decline in memory and ability to plan and organize, as well as uncontrolled movement of certain body parts.

All this is caused by a single mutation on the fourth chromosome of our genome. This detrimental mutation causes a mutation in the protein Huntingtin. Though the normal role of this protein is not fully understood, it is thought to play an important role in nerve cells and the effects of its malfunction contribute to Huntington’s disease.

With the effects of Huntington disease being so devastating on patients and their loved ones, researchers around the world work tirelessly to better understand the disorder in the hopes of finding a curative treatment that does not exist currently.

While the symptoms of Huntington disease normally begin in adulthood (after age 30), an important part of better understanding Huntington’s involves looking at exactly what effects the malfunctioning protein may have and just how early malfunctions start occurring.

To look at this, Dr. Humbert and a team of researchers at various French institutions carried out a two-part study in animals and humans. In mice, they were able to find that this malfunctioning protein, impairs how brain cells are formed via neural progenitor cell division and how they migrate to the right place and mature within the central nervous system.

To investigate this further, they also examined tissue from human fetuses that carried the Huntington disease mutation. At only 13 weeks of gestation, these tissues also showed clear abnormalities, specifically in the developing outer layer of the brain (cortex), which we know plays a vital role in the higher-level processes of the human brain such as perception of senses, our emotions, decision-making, language ability, and more.

These disruptive observations confirm that neurodegenerative disorders can have a neurodevelopmental component and they highlight the need for new molecular treatment that could be given to patients very early on in life.

Source: News Release
Federation of European Neuroscience Societies
July 8, 2022