New research is suggesting that young onset Parkinson’s disease (PD) – which is classified as being diagnosed with the condition between the age of 21 and 50 – may start at birth. Only 10% of those with PD have young onset disease but being given this diagnosis in your prime of life, can be emotionally challenging. As you may recall, Michael J Fox was famously diagnosed with the young onset form of the disease at 29 years old in 1991 and had to semi retire from acting 9 years later when his symptoms worsened.
PD affects the brain neurones which produce dopamine. Dopamine is a neurotransmitter which helps to coordinate movement. In PD, these dopamine neurones become impaired or die, which affect a person’s ability to move properly. Symptoms of Parkinson’s disease include rigid muscles, moving slowly and having difficulty with balance. There is currently no known cure for Parkinson’s disease or a true understanding of why these neurones begin to fail.
The pioneering research published in Nature Medicine, took a special group of stem cells known as induced pluripotent stem cells (iPSCs) from those with young onset PD. A stem cell is a cell that can develop into any cell in the body so once the cells had been extracted they were able to develop these cells into dopamine neurone cells and culture them to understand their functionality. Essentially this showed researchers how these dopamine neurones had functioned in these individuals since they were born.
The findings of the study indicated 2 key abnormalities. Firstly, there was a build up of a protein called alpha-synuclein which is commonly found in PD patients. And secondly, these neurones had inadequate lysosomes, which help break down and dispose of proteins from the body. This also creates a build up of alpha-synuclein. As this abnormality is likely to have occurred at a young age, the build up of alpha-synuclein over a period of 20 -30 years, then leads to the development of symptoms of PD.
As part of the study scientists explored whether any drugs would help to avert this build-up of alpha-synuclein from a young age potentially preventing the onset of PD. The study found that a gel that is used to treat skin-related pre-cancers called PEP005 did reduce the amount of alpha-synuclein in mice, so further research has been suggested to see how this could be delivered to the brain of people with PD.
PEP005 also reduced active enzymes called protein kinase C which is usually elevated in PD patients, although it is not understood what role this enzyme plays in the disease. Theories suggest that increased activity of these enzymes create oxidative stress and inflammation and impact the body’s waste disposal process called autophagy.
This research provides a better understanding of why PD develops in people at a young age and offers some ideas for preventative solutions to catch the disease before the symptoms develop. More research is needed to understand these processes further, but it does give some hope for the future therapies of this debilitating and life-changing disease.
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