New PDS-funded research on role of PINK1 gene
18 March 2009
Dr Andrey Y Abramov, awarded a Fellowship from the PDS, has had a
research paper on the role of the PINK1 gene published in the
journal Molecular Cell.
The PINK1 gene, one of five associated with inherited
Parkinson's, was discovered by PDS-funded scientists in 2004. The
new study, carried out at the Institute of Neurology, looked at
mutations in the gene, how these mutations affect cells, and why
dopamine-producing nerve cells may become vulnerable and more
likely to die.
Parkinson's is a neurodegenerative condition characterised by
the death of nerve cells in a specific part of the brain. Several
genes have been linked with inherited forms of the condition and
many of these are associated with mitochondria, which are the tiny
'power plants' within cells. Mitochondria also play a major role in
maintaining appropriate calcium levels inside of
cells. Abnormal calcium levels can be toxic to nerve
cells.
Mutations in PINK1 cause an inherited form of Parkinson's.
Research has shown that this is contained within mitochondria.
Dr Abramov explains:
"We previously demonstrated that the lack of PINK1 gives rise to
an age related death of nerve cells due to the fact that the
mitochondria do not work correctly. However, the reasons for this
are unknown."
Dr Abramov and colleagues used a very sensitive experimental
technique to explore how mitochondria may not work properly in
people with Parkinson's due to mutations in the PINK1 gene. They
found that a lack of PINK1 upset the calcium levels and prevented
the mitochondria from working properly. The cells were then not
able to generate as much energy and became very fragile. This would
make the nerve cells more vulnerable to injury.
Dr Kieran Breen, Director of Research & Development at the
Parkinson's Disease Society, added:
"This is a very important study as it helps us to understand why
nerve cells die in Parkinson's and potentially how we may be able
to prevent this happening.
"Research such as this will help us towards attaining our
ultimate goal – finding a cure for Parkinson's. We are very keen to
support the researchers of the future to carry out cutting-edge
research such as this."
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