Researchers at McGill University celebrated a “first” by creating a mouse model in a dish to demonstrate the effect that mutations in the SLC9A6 gene have on brain cells. As reported in CheckOrphan recently, it is well known that mutations in the SLC9A6 gene can lead to Christianson syndrome. Until now, however, there has been a cloud surrounding the neural mechanism of the disease.
About Christianson Syndrome
Symptoms of Christianson syndrome, a genetic disorder, usually appears in infancy and generally affects boys.
It is characterized by epilepsy, intellectual disability, impaired ocular movements, inability to speak, delayed development, and difficulty with balance, coordination, standing, or walking.
Secondary symptoms may include autism-like behaviors, low weight and height, and acid reflux.
NHE6: A GPS Inside Our Brain cells
The McGill researchers chose to concentrate on the disease from the standpoint of intellectual disabilities. They report that NHE6 operates just like a GPS. It directs other proteins to locations so that neurons (nerves) will function correctly. This occurs during the memory and learning process.
The Memory and Learning Process
The connective tissue between our brain cells and the internal machinery within our brain cells are formed by proteins. The chemical reactions that permit our brain cells to communicate are also controlled by these proteins.
The senior author of the study, Dr. Anne McKinney, explained that the SLC9A6 gene sends instructions to create the protein NHE6.
But if a mutant form of the SLC9A6 gene causes NHE6 to malfunction, proteins are not directed to the correct locations. As a result, neurons lose the ability to strengthen connections. Then they are unable to function as part of learning mechanisms.
Mouse Neurons in A Dish
The researchers created mouse neurons in a dish that were a mutant version of SLC9A6 found in patients. They were able to observe changes in the appearance of the brain cells. They also noted how the cells reacted to artificial learning as well as memory stimulation.
The team discovered that when they restored the ‘GPS’ protein function they could resurrect a portion of the mechanisms that involve learning ability.
Hope For The Future
Researchers hope that these findings will lead to additional clues that will help them modify the effect of the mutation and deliver clinical benefit in the future.
What are your thoughts about a possible connection between Christianson syndrome, autism, and epilepsy?
