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research suggests parkinson's may start at birth

new research shows that people who develop parkinson’s disease before the age of 50 may have been born with a disorder that went undetected for decades.

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new research shows that people who develop parkinson’s disease before the age of 50 may have been born with a disorder that went undetected for decades, according to scientists at cedars-sinai medical centre.
parkinson’s is a disease that occurs when brain neurons that make dopamine, a substance that helps to coordinate muscle movement, become impaired or die. symptoms include slowness of movement, rigid muscles, tremors and loss of balance. over time, the symptoms get worse. the exact cause of the neuron failure is unclear, and there is no known cure for the disease.

in canada, over 100,000 people are living with the disease, with more than 6,000 new cases diagnosed every year. while the risk of the disease increases with age, the average age of onset is around 65 years old. about five to ten per cent of cases develop before the age of 40. when symptoms appear in people between the ages of 21 to 40, it’s known as young-onset parkinson’s disease.

the study, published in the journal of natural medicine, focuses on these young patients. “young-onset parkinson’s is especially heartbreaking because it strikes people in the prime of life,” said michele tagliati, md, director of the movement disorders program, vice-chair and professor in the department of neurology at cedars-sinai.

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researchers generated special stem cells (known as induced pluripotent stem cells or ipscs) from the cells of patients with young-onset parkinson’s disease. the process involved taking these adult blood cells “back in time” to an embryonic state. the stem cells can then produce any cell type in the body, all genetically identical to the patient’s own cells.
the team then used the stem cells to produce dopamine neurons from each patient and analyzed the neurons’ functions.
clive svendsen, phd, director of the cedars-sinai board of governors regenerative medicine institute and professor of biomedical sciences and medicine at cedars-sinai said, “our technique gave us a window back in time to see how well the dopamine neurons might have functioned from the very start of a patient’s life.”
the team noticed two distinct abnormalities in their findings. there was an accumulation of a protein called alpha-synuclein, which occurs in most forms of parkinson’s disease, and malfunctioning lysosomes, cell structures that act as ‘trash cans’ for the cells to break down and dispose of proteins. this malfunction causes alpha-synuclein to build up.
“what we are seeing using this new model are the very first signs of young-onset parkinson’s disease,” said svendsen.

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with their results, researchers also tested a number of drugs to see what could reduce the effects of young-onset parkinson’s. they found that one drug, pep005 (which is already used for treating precancers on the skin) reduced the elevated levels of alpha-synuclein in the lab.
the team says that more research is needed to confirm their results, but they are confident about working with patients in the future. next, they hope to see if pep005 can be delivered in the brain to treat or prevent young-onset parkinson’s.

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