An Ottawa-led team of researchers has identified a gene, Snf2h, that plays a
key role in the proper development of cerebellum.
Cerebellum is the master control center of the brain that is responsible for
motor movement, coordination, balance, equilibrium and muscle tone.
Snf2h gene is located in our brain's neural stem cells and acts as master
When this gene was removed early on in a mouse's development, its cerebellum
grew only to one-third the normal size, and the mouse suffered from symptoms of
cerebellar ataxia, such as inability to walk, coordinate and balance.
David Picketts, senior scientist at Ottawa Hospital Research Institute in
Canada, said "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
He also added "Without Snf2h there to keep things organised, genes that
should be packed away are left turned on, while other genes are not properly
"This disorganisation within the cell's nucleus results in formation of
a neuron that does not perform very well,"
Nearly half the neurons that are seen in the brain belong to the
cerebellum. The cerebellum also grows
in response to external signals.
As we perform certain activities of daily living, some genes or groups of genes are turned
off and on. This in turn strengthens
the circuits and perfects the activities undertaken.
The researchers have discovered that the Snf2h gene engineers this complex
and ongoing process.
These master genes are also known as epigenetic regulators.
Pickets said that these epigenetic regulars affect memory, behavior and
learning. He also added that without
Snf2H, enough cerebellar neurons are not produced and the ones that are
produced fail to respond or adapt to external stimuli.
He also said that they also show a progressively disorganised gene
expression profile that results in cerebellar ataxia and the premature death of
The findings were displayed in the journal Nature Communications.