Understanding Parkinson’s disease – lessons from biology
UCL Institute of Neurology Parkinson’s Disease (PD) experts Dr Emma Deas, Dr Andrey Abramov and Professor Nicholas Wood joined forces with prominent Cambridge biophysicists Dr Nunilo Cremades, Professor David Klenerman FRS and Professor Christopher Dobson FRS to identify the pathological species of alpha-synuclein responsible for nerve cell damage during disease.
Webcast of the presentation entitled ‘The genetics of LRRK2: A role in the sporadic form of Parkinson’s disease’ given by Nick Wood
(University College London, UK), presented at the Biochemical Society
Focused Meeting on LRRK2: function and dysfunction, held in March 2012. More…
There are several genes in which we now know that mutations cause Parkinson’s disease (PD). These range from fairly frequent mutations, like those in LRRK2, to rarer ones such as those in SNCA.
One of the rare genes is ATP13A2, known to cause Kufor-Rakeb syndrome (KRS), a form of autosomal recessive hereditary parkinsonism with dementia and juvenile onset. Although little is known about the function of this gene, it is suspected to act in the lysosomal membrane, and to be responsible for the maintenance of lysosomal pH. The lysosomal pathway has, in the last few years, attracted interest as a novel mechanism involved in the pathogenesis of PD, following not only the identification of ATP13A2 mutations, but also the risk conferred by GBA mutations for the development of this disorder.
A team of researchers led by Drs. Rita Guerreiro and Jose Bras at UCL has identified mutations in ATP13A2 as a cause of a separate disease entity called Neuronal Ceroid-Lipofuscinosis (NCL) in a large family from Belgium. More…
LRRK2 – pronounced lark 2 – is the most common gene associated with
Parkinson’s. A mutant form of LRRK2 can cause the death of nerve cells,
and blocking this form of LRRK2 from working can prevent this from
happening. Before we can use this knowledge to develop treatments we
need to fill in the gaps in our understanding of the role LRRK2 plays
when it’s healthy, and of the different proteins it interacts with along
the way within the nerve cell.
Figuring out how LRRK2 works and
how to change this is a promising route to developing novel therapies
for the treatment and ultimately cure for Parkinson’s. Although a long
way off, we hope that these can ultimately be tested in the clinic to
see if we can slow down or alter the progress of the condition.
A team, led by Dr Tom Foltynie, from UCL Institute of Neurology’s Unit of
Functional Neurosurgery recently published a study in the Journal of Neurology,
Neurosurgery and Psychiatry, highlighting the positive results of Subthalamic
Nucleus Deep Brain Stimulation (STN DBS) surgery on patients with Parkinson’s disease.
Specifically the study looked at the outcome of 79 consecutive patients who
underwent the surgery at the National Hospital of Neurology and Neurosurgery,
Queen Square, showing that the surgery was both safe and beneficial to
Parkinson’s patients. More…