Researchers have identified a gene which is required
for the proper development of a healthy cerebellum, a master control
centre in the brain for balance, fine motor control and complex physical
movements.Researchers have found that a specific gene, called Snf2h, plays an important role in the development of the cerebellum.Athletes
and artists perform their extraordinary feats relying on the
cerebellum. The cerebellum is critical for the everyday tasks and
activities that we perform, such as walking, eating and driving a car.By
removing Snf2h, researchers found that the cerebellum was smaller than
normal, and balance and refined movements were compromised.Led
by Dr. David Picketts, a senior scientist at the Ottawa Hospital
Research Institute and professor in the Faculty of Medicine at the
University of Ottawa, the team described the Snf2h gene, which is found
in our brain’s neural stem cells and functions as a master regulator.
When they removed this gene early on in a mouse’s development, its cerebellum only grew to one-third the normal size.It
also had difficulty walking, balancing and coordinating its movements,
something called cerebellar ataxia that is a component of many
neurodegenerative diseases.“As these cerebellar stem
cells divide, on their journey toward becoming specialised neurons,
this master gene is responsible for deciding which genes are turned on
and which genes are packed tightly away,” said Picketts.“Without
Snf2h there to keep things organised, genes that should be packed away
are left turned on, while other genes are not properly activated.“This
disorganisation within the cell’s nucleus results in a neuron that
doesn’t perform very well — like a car running on five cylinders instead
of six,” he said.The cerebellum contains roughly half the neurons found in the brain. It also develops in response to external stimuli.So,
as we practice tasks, certain genes or groups of genes are turned on
and off, which strengthens these circuits and helps to stabilise or
perfect the task being undertaken.
The researchers
found that the Snf2h gene orchestrates this complex and ongoing process.
These master genes, which adapt to external cues to adjust the genes
they turn on and off, are known as epigenetic regulators.
“These epigenetic regulators are known to affect memory, behaviour and learning,” said Picketts.
“Without
Snf2h, not enough cerebellar neurons are produced, and the ones that
are produced do not respond and adapt as well to external signals.“They
also show a progressively disorganised gene expression profile that
results in cerebellar ataxia and the premature death of the animal,” he
said.
The study was published in the journal Nature Communications.