Angelman Syndrome is a rare disease that primarily affects the nervous system, causing intellectual disability, severe movement and balance problems, speech impairment, and seizures. Although there is currently no cure and treatments are limited, a recent discovery could considerably improve the lives of those diagnosed with this ailment: linoleic acid, a type of omega-6, was linked to improved mobility and coordination in an animal model.

Around the world, it is estimated that this condition affects one in ten thousand people, which is why it is considered a rare disease, and the first signs can be detected as early as six months of age.

Some of the first signs are developmental delays, such as not crawling or babbling when they have reached these first months of life.

Colin Farrell, the well-known Irish actor, is the father of James, a twenty-year-old man who was diagnosed with this syndrome when he was two and a half years old. According to Farrell, there is still much to be done to guarantee that people like his son have a dignified life.

“I obviously have a certain amount of means, having had a career in film for twenty plus years and we still struggle with finding the kind of support that James deserves, and should rightfully have,” he told The Guardian recently.

Although efforts to find innovative therapies are not as plentiful as with other diseases, there are those who are looking for answers.

In a recent study, a group of researchers from the University of Tennessee Health Sciences Center and the School of Engineering and Sciences (EIC) at Tec de Monterrey, found that a diet high in linoleic acid can improve mobility in an animal model of Angelman Syndrome.

“If you study the basic science of the cells and molecules that make up living bodies, you will then have the ability to propose a therapeutic route,” says Francisco Sierra, a research professor at the EIC who was part of the team, in an interview with TecScience.

Linoleic Acid and PIEZO2

To date, there is no cure for Angelman Syndrome and its treatment focuses mainly on medicine and therapies to alleviate the symptoms of each patient, which can vary.

One of the answers to help in its treatment could lie in a relatively simple concept: increasing the amount of foods rich in linoleic acid, such as nuts, peanuts, tofu, vegetable oils –like avocado and olive oil–, hemp and sunflower seeds in patients’ diets.

This is according to the study, which shows that this fatty acid can help improve the movements and coordination of an animal model of Angelman Syndrome.

In a test, the researchers placed linoleic acid directly in sensory neurons isolated from the animal model.

According to their experiments, what linoleic acid does is increase the activity of an ion channel, called PIEZO2, which is present in the cell membrane of neurons and is essential for coordination and balance in animals, including humans.

Angelman Syndrome is caused by changes in the UBE3A gene and, according to their animal model, these changes lead, among other things, to a reduction in the activity of PIEZO2 in sensory neurons.

“We found an animal model with the mutation for this disease and found that the opening capacity of the PIEZO2 channel was largely restored,” explains Sierra.

They then incorporated linoleic acid into the diet of their animal model and saw that it improved its movements, coordination and balance.

Their hypothesis is that, when this fatty acid comes into contact with the cell membrane, it rearranges it and makes it mofe fluid and, therefore, less force is required to activate PIEZO2, thus recovering its function without the need to increase its quantity.

The Cure Could be Just Around the Corner

An interesting aspect of the study is that the researchers had previously tested other types of fatty acids, such as oleic acid (found in olive, avocado, or sunflower oils) and stearic acid (found naturally in meat, dairy products, and cocoa butter), but they realized that the only one that managed to increase PIEZO2 activation was linoleic acid.

This example shows how understanding the cell membrane’s function and its interaction with specific external elements, such as linoleic acid, can trigger relevant discoveries for many types of diseases.

“The lipid membrane is not just there for show, it is a mediator in the function of ion channels and regulates many processes and diseases,” says Sierra.

In the future, the researcher seeks to continue unraveling the molecular and cellular mechanisms by which linoleic acid can interact with PIEZO2 and the cell membrane to increase its activation.

He also wants to find innovative ways to include linoleic acid in a more efficient or targeted treatment to treat Angelman Syndrome, since consuming it through our diet could have a weaker effect than what is sought or have unwanted side effects.

However, to achieve a treatment that can be used in humans there are still many steps to follow, since the stage they are in is still an initial one.

“There is a huge gap between discovering something in a model and taking it to a clinical application,” he says. “But that does not change the importance of doing basic science; first we need to understand, because the cure might just be around the corner.”

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