帕金森氏症基因危险因素被发现

"Our study reveals the interaction of genetic and environmental factors such as dietary habits in the pathogenesis发病机理 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新陈代谢 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神经原 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吡哆醛 kinase激酶，致活酶 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多巴胺能的 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先决条件 for the production of the neurotransmitter神经传递素 dopamine多巴胺. 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严厉，精确 and tremor and a slowing of movement (bradykinesia动作迟缓). 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感觉异常, vegetative disorders (e.g. bladder dysfunction) and depression as well as other psychological changes can occur.

"Our study elucidates说明，阐明 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线粒体的 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. "