Breakthrough sheds light on faulty gene behind inherited condition with hopes drugs could target symptoms sooner
- Inherited Parkinson's disease is caused by mutations in the LRRK2 gene
- Scientists have found a way of monitoring the activity of mutations
- This could lead to a test for the progressive neurological condition
- Could allow medics to develop drugs to slow the disease's progression
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A test for Parkinson's disease may be one step closer after doctors find a new way of identifying thje genetic mutations linked to the condition
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Doctors may soon be able to test for Parkinson's disease after scientists revealed the genetic mutations linked to the condition.
They found a way of measuring the activity of disease-causing mutations in our genes.
This should allow medics to diagnose the disease early and develop drugs to slow the condition.
Currently there is no cure or test to conclusively someone has the disease.
The progressive neurological condition affects one in 500 people and involves parts of the brain become progressively damaged over many years.
The three main symptoms are involuntary shaking of particular parts of the body, slow movement and stiff and inflexible muscles.
University of Dundee scientists developed a new method of measuring the activity of mutations in the LRRK2 gene, a major cause of inherited Parkinson's disease.
Professor Dario Alessi, who led the study, said: 'It's important to better understand how disruption in LRRK2 biology causes Parkinson's disease and whether a drug that targeted the LRRK2 enzyme would offer therapeutic benefit.
'Current drug treatments only deal with symptoms of the condition, such as tremors, but do not affect the progression of Parkinson's disease.
'An important question is whether a LRRK2 therapy might have potential to slow progression of the condition, which no other current therapy is able to do,'
Mutations in the LRRK2 gene are the most common cause of genetic Parkinson's disease.
The most common disease-causing mutation in this gene increases the activity of the LRRK2 protein three-fold.
This implies that the increase in activity of the protein may contribute towards the symptoms of the disease.
It also suggests that drugs that reduce the activity of the LRRK2 protein (LRRK2 inhibitors) may help treat patients with this form of inherited Parkinson's.
When the LRRK2 protein is active, it stops another protein called Rab10 from fulfilling its function in the body.
Proteins from the Rab family are known to be low in number or deactivated in people with different forms of Parkinson's disease.
The study in mice analysed how much of the Rab10 protein has been deactivated - a process which measure whether the activity of the LRRK2 protein is heightened.
Professor Alessi explained: 'The prediction is that elevation of LRRK2 activity leads to Parkinson's disease, and this is now testable using our assay.
'The expectation is that if a sub-group of patients can be identified with elevated LRRK2 activity, these individuals might benefit most from LRRK2 inhibitors.'
While more research was needed the breakthrough could help with future drug developments for patients with this form of Parkinson's disease.
Scottish researchers said the breakthrough should allow medics to diagnose the disease early and develop drugs to slow the condition (file photo)
The next steps is to develop further tests to better detect and measure the deactivation of Rab protein.
Studies aiming to prove elevated Rab10 deactivation is linked with Parkinson's disease should also be carried out.
Measuring the level of Rab10 deactivation in human blood samples will allow researchers to test the efficacy of new drug candidates.
Commenting on the findings, Parkinson's expert Professor Aideen Sullivan from University College Cork said: 'This new study has capitalised on their previous work by developing a method that can measure Rab10 deactivation in small samples, giving an indication of LRRK2 activity
'If this method can be applied to human samples, it will be a significant step toward earlier and more definitive diagnosis of Parkinson's, a disease of steadily increasing prevalence that currently affects over 10 million people worldwide.'
The study was published in the Biochemical Journal.
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