American researchers have discovered two key abnormalities occurring early in life in patients with an early form of Parkinson’s.
Approximately 6.3 million people suffer from Parkinson’s disease worldwide. Although this degenerative pathology mainly affects people aged 60 and over, it happens in 10% of cases that it attacks adults aged 20 to 50 years. The cause of these Young Adult Parkinson’s Syndromes (PAYS) has until now been poorly understood. Although some cases are associated with known genetic mutations, most are not.
Researchers at Cedars-Sinai Medical Center (Los Angeles, USA) seem to have discovered that patients with Parkinson’s disease before the age of 50 were probably born with “a defect in the organization” of certain cells cerebral, which would have previously gone unnoticed. Their work has been published in the specialist journal Nature Medicine.
Discovery of 2 key abnormalities occurring in early life
To conduct this study, the research team ‘scavenged’ what are called induced pluripotent stem cells (iPSC) from cells of patients with early-stage Parkinson’s disease. This process involves “going back in time” and returning the patient’s adult cells to a primitive embryonic state.
These cells are considered to be one of the major advances in biotechnology, since they have the ability to differentiate into any cell in the human body. The researchers then used them to produce what is called from dopaminergic neurons (neurons that produce dopamine) from each patient. “This technique gave us a window in time to see how well dopamine neurons might have been functioning early in a patient’s life,” says Clive Svendsen, director of Cedars-Sinai and lead author of the study.
Researchers have discovered two important abnormalities that could explain the development of Parkinson’s disease at an early age: the accumulation of a protein called alpha-synuclein in dopaminergic neurons (a phenomenon seen in most forms of Parkinson’s disease), and defective lysosomes, cellular microorganelles that act as “trash cans” for a cell to break down and eliminate proteins. This malfunction could cause an accumulation ofalpha-synuclein.
Hope for future patients
“We have discovered, using this new model, the very first signs of Parkinson’s disease at an early stage, explains Clive Svendsen. It appears that dopaminergic neurons in these individuals may continue to misprocess alpha-synuclein over a 20 or 30 year period, causing the symptoms of Parkinson’s to emerge.” This new research gives hope that one day doctors will find a way to regulate the accumulation ofalpha-synuclein from the youngest age.
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