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Alzheimer's, Parkinson's & Mental Health
Australians Claim Low-Cost Gene Screening for
Parkinson's Disease
Seeks people for gene-sequencing trial,
Australia-wide gene-mapping study
 Feb. 23, 2007 – The horrors of Parkinson's disease
create major fear for many older people, who are aware the disease primarily
strikes people over age 50. Scientist in Australia claim to have
developed a cost-effective diagnostic test for PD, which will also
assist researchers to understand the genetic basis of PD and to
undertake large-scale studies to identify the genes that cause this
debilitating condition.
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Alzheimer's, Dementia & Mental Health |
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At least one million people in the United States
are estimated to have Parkinson's; many of them, perhaps half, are
thought to be undiagnosed, according to information from the Michael J.
Fox Foundation. Some estimate that as many as one percent of the people
over the age of 60 are affected by PD.
Currently there is no specific PD diagnostic test
and doctors rely on their observations to make a diagnosis, which means
some patients may not be prescribed the most suitable medication and
around 15% of those diagnosed may actually be suffering from something
else, according to the scientists at Melbourne 's Howard Florey
Institute.
Conventional DNA sequencing of all six known
Parkinson's disease genes is available but this test costs $4,000 and is
not covered by Medicare.
Florey research leader, Dr Justin Rubio, says he
has created a "gene-sequencing chip" that screens 17 genes, including
the six known Parkinson's disease genes plus some other suspects in one
simple test, at a cost of $500.
Dr Rubio said the gene-sequencing chip would allow
for routine testing of people suspected of having Parkinson's disease.
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What is Parkinson's Disease?
Parkinson's disease (PD) belongs to a
group of conditions called motor system disorders, which are the
result of the loss of dopamine-producing brain cells and it
usually affects people over the age of 50.
The four primary symptoms of PD are
tremor, or trembling in hands, arms, legs, jaw, and face;
rigidity, or stiffness of the limbs and trunk; bradykinesia, or
slowness of movement; and postural instability, or impaired
balance and coordination. As these symptoms become more
pronounced, patients may have difficulty walking, talking, or
completing other simple tasks.
Early symptoms of PD are subtle and occur
gradually. In some people the disease progresses more quickly
than in others. As the disease progresses, the shaking, or
tremor, which affects the majority of PD patients may begin to
interfere with daily activities.
Other symptoms may include depression and
other emotional changes; difficulty in swallowing, chewing, and
speaking; urinary problems or constipation; skin problems; and
sleep disruptions.
There are currently no blood or
laboratory tests that have been proven to help in diagnosing
sporadic PD. Therefore the diagnosis is based on medical
history and a neurological examination. The disease can be
difficult to diagnose accurately. Doctors may sometimes
request brain scans or laboratory tests in order to rule out
other diseases.
Information from National Institute of
Neurological Disorders and Stroke.
Click here for more about Parkinson's. |
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“Around 100,000 Australians have Parkinson's
disease but few have had DNA testing for the known genes that cause the
disease due to the prohibitive cost,” Dr Rubio said.
“We are now seeking funding to conduct a
large-scale trial to examine the effectiveness of our $500 chip compared
with the $4,000 DNA test and we are confident our chip will prove to be
the better option.
“In addition to providing a genetic diagnosis it is
hoped that our chip will eventually be able to pinpoint genetic changes
that help to predict a person’s prognosis and even the treatment that
best suits them.
“As the test is relatively cheap and only involves
collecting a sample of blood or saliva, it could also be made available
to the patient's relatives and those at risk of developing PD.
“In addition to being a diagnostic tool, this
low-cost chip will allow researchers to undertake an Australia-wide
gene-mapping study to identify further genes that are involved in PD.
“More genetic information will deepen our
understanding of PD and enable researchers to work towards ways of
preventing and treating the disease.
“The successful implementation of this technology
could also lead to genetic testing for other diseases,” Rubio said.
He plans to test the chip on DNA samples from 400
people with PD who were recruited from Victoria and Tasmania, and this
project involves collaborators from hospitals and research institutes in
both states.
Using the gene-sequencing chip, Rubio and his
collaborators now hope to extend the ‘Gene Discovery’ project to all
Australian states to determine the genetic basis of PD.
Several high-profile celebrities have been affected
by Parkinson’s, such as Don Chipp, Michael J. Fox, Mohammad Ali, and
Pope John Paul.
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Parkinson disease
affects 1 of every 100 people over the age of 60 |
Editor's Notes:
Gene-Sequencing Chip Trial and Australia-Wide
Gene-Mapping Study
Although the gene-sequencing chip is not available
for clinical use at this stage, people are being sought for both the
large-scale gene-sequencing chip trial and the Australia-wide
gene-mapping study.
To be eligible for the trial and /or study you must
have either:
1. Developed PD symptoms under the age of 40
AND/OR
2. At least three or more close relatives
(grandparents, parents, brother/sister, offspring, first cousin).
If you fit the above criteria, the Florey would
welcome your participation. To participate you must:
3. Ask your neurologist if it is OK to
participate and if your neurologist will provide the Florey your
clinical information (you will need to provide written consent to your
neurologist to do this) AND
4. Fill out a questionnaire and provide us with
a sputum sample AND
5. Be willing for the Florey to subsequently
see you to perform a clinical assessment.
For more information about the trial and study
phone (03) 8344 1888 or visit
www.hfi.unimelb.edu.au
The Howard Florey Institute says it is Australia’s
leading brain research center. Its scientists undertake clinical and
applied research that can be developed into treatments to combat brain
disorders, and new medical practices. Their discoveries will improve the
lives of those directly, and indirectly, affected by brain and mind
disorders in Australia, and around the world. The Florey’s research
areas cover a variety of brain and mind disorders including Parkinson’s
disease, stroke, motor neuron disease, addiction, epilepsy, multiple
sclerosis, autism and dementia.
Links:
>>
Overview of Genetic Testing for Parkinson's by NINDS, click
>> Michael J. Fox Foundation for Parkinson's
Research
http://www.michaeljfox.org
>>National Institute of Neurological Disorders and
Stroke
About Parkinson's at NINDS, click
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