Melbourne: Australian researchers studying
Huntington`s disease in human embryonic stem cells have
claimed that signs of the fatal genetic brain disorder can be
seen in cells which are just a few days old, a finding which
could help in developing a drug for its treatment.
The researchers, from Macquarie University`s Australian
Proteome Analysis Facility (APAF) and IVF Sydney, are the
first in the world to study Huntington`s disease in human
embryonic stem cells (hESCs), according to ABC report.
Senior scientific officer at APAF, Leon McQuade,
presented the research today at Human Proteomics Organisation
Congress in Sydney.
Huntington`s disease is a genetic disease with no cure,
characterised by a steady decline in motor control and the
dysfunction and death of brain cells.
Symptoms of Huntington`s disease are usually first seen
in middle age and become progressively worse.
Until now, studies into how the disease develops could
only be done in mouse models, which do not always accurately
reflect the disease in humans, or in brain cells of patients
after they have died.
Recently researchers have examined HESCs taken from five-
to seven-day-old embryos that were known to have Huntington`s
and had been donated by couples undergoing genetic testing
The researchers looked at how the mutation affects cells
by comparing protein production in Huntington`s and normal
The strongest difference was seen in proteins associated
with mitochondria, the `batteries` of cells.
There has already been evidence of mitochondria being
affected in Huntington`s, but this evidence has come from much
later stages of the disease - two week old mice and adult
McQuade said being able to see these changes in such
young cells could change the way researchers think about
"This is the first study, using embryonic cells, where
we`re actually seeing mitochondrial dysfunction even before
differentiation into neurons," he said.
He said the task now is to understand how the
mitochondria are disrupted, with a view to one day developing
"Human embryonic stem cells provide us with a very good
model for doing drug toxicology and efficacy testing - it`s a
model that we really haven`t had before."