Gene Variant Influences Vitamin B6 Metabolism - An international team of doctors and human geneticists has identified a new genetic risk factor for Parkinson's disease. The institutions involved in the study were the Institute of Human Genetics of Helmholtz Zentrum München and Technische Universität München, the Neurological Clinic of Ludwig-Maximilians-Universität Munich (LMU) and the Mitochondrial Research Group of Newcastle University, Newcastle upon Tyne, UK.
"Our study reveals the interaction of genetic and environmental factors such as dietary habits in the pathogenesis of Parkinson’s disease," explained Dr. Matthias Elstner of the Neurological Clinic of LMU and Helmholtz Zentrum München, lead author of the study. In addition, this genome-wide expression and association study confirms that vitamin B6 status and metabolism significantly influence both disease risk and therapy response (Annals of Neurology, January, 2010).
Scientists of the two Munich universities and Helmholtz Zentrum München investigated neurons in the brain to determine which genes modify their activity in Parkinson’s disease. Among other findings, the research group detected increased activity of the pyridoxal kinase gene. In a subsequent international cooperation project, the researchers compared this gene in over 1,200 Parkinson patients with the genetic data of more than 2,800 healthy test subjects. In doing so, they discovered a gene variant which increases the risk for Parkinson’s disease and which may lead to a modified quantity or activity of the enzyme pyridoxal kinase (PDXK) in the brain. In combination with genetic association analysis, the innovative method used here – single cell expression profiling of dopaminergic neurons – opens up new possibilities for analyzing genetic risk factors.
PDXK converts Vitamin B6 from food sources into its physiologically active form, which is the prerequisite for the production of the neurotransmitter dopamine. Parkinson’s disease is linked to the accelerated aging and dying off of neurons that produce dopamine. The decreased synthesis of this neurotransmitter explains most of the disease symptoms: The gradual progression of the neurological disease is accompanied by muscle rigor and tremor and a slowing of movement (bradykinesia). Besides the constraints on daily life caused by these symptoms, the postural instability of the body can lead to dangerous falls. Moreover, in the course of the disease sensory symptoms like paresthesia, vegetative disorders (e.g. bladder dysfunction) and depression as well as other psychological changes can occur.
"Our study elucidates how genetic and environmental factors such as dietary habits interact in the pathogenesis of Parkinson’s disease,“ explained Dr. Matthias Elstner of the Neurological Clinic of LMU and Helmholtz Zentrum München, who is lead author of the study. Dr. Holger Prokisch, head of the research team studying mitochondrial diseases at Helmholtz Zentrum München and TU München, added: “Although this variant is responsible for only a slight contribution to the overall risk for Parkinson’s disease, our findings could aid in developing individualized therapies."
For more information go to www.parkinsonresearchfoundation.org
Wednesday, January 20, 2010
Monday, January 11, 2010
Stomach hormone protects against Parkinson’s disease
A hormone produced in the stomach may be used to boost resistance to Parkinson’s disease because of its protecting action on dopamine neurons.
Parkinson’s – a degenerative disease of the central nervous system - develops when dopamine cells die, and reduced production of dopamine in late-stage Parkinson’s can cause difficulty in walking, restricted or delayed movement, lack of appetite and difficulty eating, ‘freezing’ or motionlessness, and head and limb tremors. Researchers from Yale School of Medicine found that ghrelin, a hormone produced in the stomach, is protective of dopamine neurons.
“We also found that, in addition to its influence on appetite, ghrelin is responsible for direct activation of the brain’s dopamine cells. Because the hormone originates from the stomach, it is circulating normally in the body, so it could easily be used to boost resistance to Parkinson’s or it could be used to slow the development of the disease,” said Tamas Horvath, chair and professor of comparative medicine and professor of neurobiology and obstetrics & gynaecology at Yale School of Medicine.
Horvath - who studied the action of ghrelin in mice - suggests the results could easily be translated to humans because the ghrelin system is preserved through various species. Horvath and his colleagues conducted the study in mice that received a ghrelin supplement and those that were deficient in the hormone and receptor. When compared to control mice, those with impaired ghrelin action in the brain had a greater loss of dopamine.
Horvath and his team will now try to establish ghrelin levels in both healthy individuals and Parkinson’s patients, and determine whether altered ghrelin levels might be biomarkers of disease development and vulnerability.
Ghrelin is associated with the release of growth hormones, appetite, learning and memory, and reward circuitry for the brain that regulates food cravings. Recent studies show that body mass index, stored fat and diabetes are linked to Parkinson’s, and obesity is a risk factor for neurodegeneration in mice.
For more information go to www.parkinsonresearchfoundation.org
Parkinson’s – a degenerative disease of the central nervous system - develops when dopamine cells die, and reduced production of dopamine in late-stage Parkinson’s can cause difficulty in walking, restricted or delayed movement, lack of appetite and difficulty eating, ‘freezing’ or motionlessness, and head and limb tremors. Researchers from Yale School of Medicine found that ghrelin, a hormone produced in the stomach, is protective of dopamine neurons.
“We also found that, in addition to its influence on appetite, ghrelin is responsible for direct activation of the brain’s dopamine cells. Because the hormone originates from the stomach, it is circulating normally in the body, so it could easily be used to boost resistance to Parkinson’s or it could be used to slow the development of the disease,” said Tamas Horvath, chair and professor of comparative medicine and professor of neurobiology and obstetrics & gynaecology at Yale School of Medicine.
Horvath - who studied the action of ghrelin in mice - suggests the results could easily be translated to humans because the ghrelin system is preserved through various species. Horvath and his colleagues conducted the study in mice that received a ghrelin supplement and those that were deficient in the hormone and receptor. When compared to control mice, those with impaired ghrelin action in the brain had a greater loss of dopamine.
Horvath and his team will now try to establish ghrelin levels in both healthy individuals and Parkinson’s patients, and determine whether altered ghrelin levels might be biomarkers of disease development and vulnerability.
Ghrelin is associated with the release of growth hormones, appetite, learning and memory, and reward circuitry for the brain that regulates food cravings. Recent studies show that body mass index, stored fat and diabetes are linked to Parkinson’s, and obesity is a risk factor for neurodegeneration in mice.
For more information go to www.parkinsonresearchfoundation.org
Monday, January 4, 2010
World Parkinson Congress announced
The second World Parkinson Conference is coming very soon.
The World Parkinson Congress will be held in the UK in 2010 and people associated with the disease are being given the chance to get involved.
In its capacity as one of the five leading sponsors of the World Parkinson Congress, the Parkinson's Disease Society (PDS) is hoping to inspire individuals to consider issues much more at only the second congress of its kind.
Held in Glasgow between September 28th and October 1st 2010, the latest scientific discoveries, carers' initiatives and medical practices related to Parkinson's disease will be discussed by the leading authorities in the industry.
The event is open to anyone touched by Parkinson's, with neurologists, health professionals, scientists, people with Parkinson's and carers expected to gather to share knowledge and develop partnerships to identify best practice in order to further the development of a cure for the condition.
This week, the PDS announced that it is looking for people to join Trek Nepal, which it has described as one of the charity's "most exciting fundraising events of 2010".
For more information go to www.parkinsonresearchfoundation.org
The World Parkinson Congress will be held in the UK in 2010 and people associated with the disease are being given the chance to get involved.
In its capacity as one of the five leading sponsors of the World Parkinson Congress, the Parkinson's Disease Society (PDS) is hoping to inspire individuals to consider issues much more at only the second congress of its kind.
Held in Glasgow between September 28th and October 1st 2010, the latest scientific discoveries, carers' initiatives and medical practices related to Parkinson's disease will be discussed by the leading authorities in the industry.
The event is open to anyone touched by Parkinson's, with neurologists, health professionals, scientists, people with Parkinson's and carers expected to gather to share knowledge and develop partnerships to identify best practice in order to further the development of a cure for the condition.
This week, the PDS announced that it is looking for people to join Trek Nepal, which it has described as one of the charity's "most exciting fundraising events of 2010".
For more information go to www.parkinsonresearchfoundation.org
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