Parkinson's, Dementia & Mental Health
Six New Genetic Risks Found for Parkinson’s Disease
that Targets Seniors
Study shows power of combining big data analysis with
cutting-edge genomic techniques
28, 2014 - Using data from over 18,000 patients, scientists have
identified more than two dozen genetic risk factors involved in
Parkinson's disease, including six that had not been previously
reported. The biggest risk factor long established for PD is age: it
usually attacks people at about age 60 and the risk factor continues to
increase with age.
The study, published in Nature Genetics, was
partially funded by the National Institutes of Health (NIH) and led by
scientists working in NIH laboratories.
Although the average age of onset is 60, about 5 to
10 percent of people with Parkinson's have "early-onset" disease which
begins before the age of 50. Early-onset forms of Parkinson's are often
inherited, though not always, and some have been linked to specific gene
mutations. PD is twice as likely to strike men as it is women. About
60,000 Americans are diagnosed with Parkinson's disease each year.
"Unraveling the genetic underpinnings of
Parkinson's is vital to understanding the multiple mechanisms involved
in this complex disease, and hopefully, may one day lead to effective
therapies," said Andrew Singleton, Ph.D., a scientist at the NIH's
National Institute on Aging (NIA) and senior author of the study.
Dr. Singleton and his colleagues collected and
combined data from existing genome-wide association studies (GWAS),
which allow scientists to find common variants, or subtle differences,
in the genetic codes of large groups of individuals. The combined data
included approximately 13,708 Parkinson's disease cases and 95,282
controls, all of European ancestry.
Learn more about Parkinson's Disease - see information and links
at bottom of news report.
Wake Forest study to show whether high- or
low-intensity exercising, or both, can help people with early cognition
Gura, Wake Forest Baptist HealthWire
March 19, 2014 - Marcus Dobson, 60, first recognized
the cognitive decline brought on by Parkinson's disease when he realized
he no longer wanted to play with his grandchildren or even be in the
same room with them.
The investigators identified potential genetic risk
variants, which increase the chances that a person may develop
Parkinson's disease. Their results suggested that the more variants a
person has, the greater the risk, up to three times higher, for
developing the disorder in some cases.
"The study brought together a large international
group of investigators from both public and private institutions who
were interested in sharing data to accelerate the discovery of genetic
risk factors for Parkinson's disease," said Margaret Sutherland, Ph.D.,
a program director at the National Institute of Neurological Disorders
and Stroke (NINDS), part of NIH.
"The advantage of this collaborative approach is
highlighted in the identification of pathways and gene networks that may
significantly increase our understanding of Parkinson's disease."
To obtain the data, the researchers collaborated
with multiple public and private organizations, including the U.S.
Department of Defense, the Michael J. Fox Foundation, 23andMe and many
Affecting millions of people worldwide, Parkinson's
disease is a degenerative disorder that causes movement problems,
including trembling of the hands, arms, or legs, stiffness of limbs and
trunk, slowed movements and problems with posture.
Over time, patients may have difficulty walking,
talking, or completing other simple tasks. Although nine genes have been
shown to cause rare forms of Parkinson's disease, scientists continue to
search for genetic risk factors to provide a complete genetic picture of
The researchers confirmed the results in another
sample of subjects, including 5,353 patients and 5,551 controls. By
comparing the genetic regions to sequences on a state-of-the-art gene
chip called NeuroX, the researchers confirmed that 24 variants represent
genetic risk factors for Parkinson's disease, including six variants
that had not been previously identified. The NeuroX gene chip contains
the codes of approximately 24,000 common genetic variants thought to be
associated with a broad spectrum of neurodegenerative disorders.
"The replication phase of the study demonstrates
the utility of the NeuroX chip for unlocking the secrets of
neurodegenerative disorders," said Dr. Sutherland. "The power of these
high tech, data-driven genomic methods allows scientists to find the
needle in the haystack that may ultimately lead to new treatments."
Some of the newly identified genetic risk factors
are thought to be involved with Gaucher's disease, regulating
inflammation and the nerve cell chemical messenger dopamine as well as
alpha-synuclein, a protein that has been shown to accumulate in the
brains of some cases of Parkinson's disease. Further research is needed
to determine the roles of the variants identified in this study.
Parkinson's disease (PD) is a type
movement disorder. It happens when nerve cells in the brain don't
produce enough of a brain chemical called dopamine. Sometimes it is
genetic, but most cases do not seem to run in families. Exposure to
chemicals in the environment might play a role.
Symptoms begin gradually, often on
one side of the body. Later they affect both sides. They include
• Trembling of hands, arms,
legs, jaw and face
• Stiffness of the arms, legs
• Slowness of movement
• Poor balance and coordination
As symptoms get worse, people with
the disease may have trouble walking, talking, or doing simple tasks.
They may also have problems such as depression, sleep problems, or
trouble chewing, swallowing, or speaking.
There is no lab test for PD, so it
can be difficult to diagnose. Doctors use a medical history and a
neurological examination to diagnose it.
PD usually begins around age 60,
but it can start earlier. It is more common in men than in women. There
is no cure for PD. A variety of medicines sometimes help symptoms
dramatically. Surgery and deep brain stimulation (DBS) can help severe
cases. With DBS, electrodes are surgically implanted in the brain. They
send electrical pulses to stimulate the parts of the brain that control
Imagine if parts of your body moved
when you didn't want them to. If you have a movement disorder, you
experience these kinds of impaired movement. Dyskinesia is abnormal
uncontrolled movement and is a common symptom of many movement
Tremors are a type of dyskinesia.
Nerve diseases cause many movement
disorders, such as
Parkinson's disease. Other causes include injuries, autoimmune
diseases, infections and certain medicines. Many movement disorders are
inherited, which means they run in families.
This work was supported by NIA
Intramural Research Program and grants from the NINDS, the NIA and the
National Institute of Environmental Health Sciences NIEHS.
NINDS is the nation's
leading funder of research on the brain and nervous system. The mission
of NINDS is to seek fundamental knowledge about the brain and nervous
system and to use that knowledge to reduce the burden of neurological
The NIA leads the federal
government effort conducting and supporting research on aging and the
health and well-being of older people. It provides information on
age-related cognitive change and neurodegenerative disease specifically
at its Alzheimer's Disease Education and Referral (ADEAR) Center at
Information on health and on aging generally can be found at
About the National Institutes of
Health (NIH): NIH, the nation's medical research agency, includes 27
Institutes and Centers and is a component of the U.S. Department of
Health and Human Services. NIH is the primary federal agency conducting
and supporting basic, clinical, and translational medical research, and
is investigating the causes, treatments, and cures for both common and
rare diseases. For more information about NIH and its programs, visit
Additional support was
provided by the NIH, Department of Defense, the Michael J Fox Foundation
for Parkinson's Research, American Parkinson Disease Association, Barnes
Jewish Hospital Foundation, Hersenstichting Nederland, the Prinses
Beatrix Fonds, the German Federal Ministry of Education, Science,
Research and Technology, the German Federal Ministry of Education and
Research, the State of Bavaria, the Initiative and Networking Fund of
the Helmholtz Association, the French National Agency of Research,
France-Parkinson Association, "Investissements d'avenir", Assistance
Publique-Hôpitaux de Paris, the Landspitali University Hospital Research
Fund, Icelandic Research Council, European Commission, University of
Helsinki, Helsinki University Central Hospital, University of Eastern
Finland, the Medical Research Council and Wellcome Trust, National
Institute for Health Research (NIHR) Biomedical Research Centre,
Parkinson's UK, Coriell Cell Repositories, the King Faisal Specialist
Hospital and Research Centre, National Institute for Health Research (NIHR)
Biomedical Research Centre, Cure Alzheimer's Fund (CAF), Prize4Life, the
National Alliance for Research on Schizophrenia and Depression, EMD
Serono, Fidelity Biosciences Research Initiative, the Parkinson's
disease foundation, University of Thessaly,the Hellenic Secretariat of
Research and Technology, GlaxoSmithKline Greece, the Bumpus foundation,
the Internationaal Parkinson Fonds, Netherlands Organization for
Scientific Research, Netherlands Organization for Health Research and
Development, Parkinson's UK.
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