Parkinson's disease, or PD, is a very prevalent aging disorder; More than 10 million people worldwide are said to be affected by this condition (Parkinson's Foundation), which causes issues with individual's balance, coordination, and movement due to tremors and limb stiffness. These symptoms are caused by neuronal death. Typically, we see Parkinson's disease in an older population, however there is also a particular type of Parkinson's found in people younger than 50, called Young-Onset Parkinson's.
New research has found that a mutation of the EPG5 gene can increase risk for Parkinson's disease (Dungate, J). Mutations in the EPG5 gene are currently known for causing a developmental disorder, called Vici syndrome. Vici syndrome is a condition that begins in early life, which mainly effects the brain, immune system, heart, skin, and eyes (U.S. National Library of Medicine). The hallmark feature of Vici syndrome is impaired development of the corpus callosum. Breakdown of brain tissue can also occur, which is seen in Parkinson's as well. Immune function and heart health can also be in danger with this disorder. Some individuals have severe forms of the syndrome, identifiable even before birth, while others show much milder symptoms that develop after birth.
The EPG5 gene has recently been discovered to increase risk for Parkinson's disease later in life. "Now researchers at University College London (UCL), the University of Cologne and the Max Planck Institute for Biology of Ageing have found that errors in the same gene are linked to changes in nerve cells that lead to more common age-related conditions like Parkinson's disease and dementia" (Dungate, J). Professor Heinz Jungbluth at King's College London lead this study and states: "Our work shows that, whilst rarely considered a priority, research into (ultra)rare conditions such as Vici syndrome (where fewer than 10 children are currently known to have the condition in the UK) may provide vital insights into much more common disorders and have substantial public health benefits".
Dr. Mary Makarious came and spoke to our class about the importance of diversity within the genetic aspects of Parkinson's research. She stated that certain genetic mutation are more prevalent in certain ethnic groups, which puts them at greater risk for the disease; There is a significant heritable component of Parkinson's. Makarious does work within the field of globalizing genetic research. This new finding that the EPG5 gene can increase risk should also be considered when researchers try to diversify their research. As Professor Jungbluth pointed out, diversifying research is important, because it allows us to learn more about the mechanisms of these diseases. In addition to the importance of ethnic diversity within Parkinson's research, taking this new finding into account, we should extend this diversity beyond ethnicity alone, and include different age groups of individuals, as well as other different factors. As we continue to learn more about these diseases, we must include all different types of people, so that we can towards prevention, and eventually cures, for all.
References
Dungate, J. Gene behind child brain disorder also tied to Parkinson's disease. Neuroscience News.
Understanding Parkinson's. Parkinson's Foundation.
U.S. National Library of Medicine. Vici Syndrome. Medlineplus genetics.
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