Complexities of Genetics of Parkinson’s Disease Continue to Surprise Researchers
NorthShore Researcher Relentless in Pursuit of Advancements
February 27, 2014 – A study led by Demetrius Maraganore, MD, Chairman of the Department of Neurology, NorthShore University HealthSystem was recently published in the journal Movement Disorders.
This large, longitudinal study involving more than 21 centers and 6,000 patients from all over the world is the first ever to examine the association of genetic variations with survival in Parkinson’s disease.
An estimated 1 million people in the United States and more than 5 million worldwide are living with Parkinson’s disease. Variations in the alpha-synuclein gene, which encodes a protein important to brain development and maintenance, have been demonstrated to be the most important and common genetic risk factor for Parkinson’s disease worldwide. The gene-encoded protein is of great importance to Parkinson’s researchers because it is a major constituent of Lewy bodies – clumps of protein that are the pathological hallmark of Parkinson’s.
“The purpose of the study was to determine if the genetic variations that increase Parkinson’s risk, by causing too much alpha-synuclein protein production, are also associated with reduced survival (or a greater risk for death) and whether genetic variations that reduced Parkinson’s risk by reducing alpha-synuclein protein production are associated with increased survival or a lower risk for death,” said Dr. Maraganore.
The findings of the study were consistent with other studies that found that the alpha-synuclein gene risk variant -- or too much protein -- was associated with a younger age of onset of Parkinson’s disease.
“To our surprise, there was no association found between alpha-synuclein gene variations and survival in Parkinson’s,” Dr. Maraganore concluded. “While our findings neither support nor refute treatments targeting alpha-synuclein in Parkinson’s disease, they do indicate that the association between alpha-synuclein gene variations and Parkinson’s disease is more complex than originally appreciated. More studies are needed to understand whether and how alpha-synuclein gene variations contribute to progression and outcomes in Parkinson’s disease.”
This study is just one of Dr. Maraganore’s ongoing contributions to the study of Parkinson’s as he leads the Genetic Epidemiology of Parkinson’s Disease (GEO-PD) Consortium into its eighth year. With 60 member sites from 30 countries and six continents, this consortium shares data and DNA from more than 40,000 Parkinson cases and more than 40,000 control subjects. The GEO-PD has published more than 20 peer-reviewed papers since its founding.
About NorthShore University HealthSystem
Headquartered in Evanston, Illinois, NorthShore University HealthSystem (NorthShore) is a comprehensive, fully integrated, healthcare delivery system that serves the Chicago region. The system includes four hospitals in Evanston, Glenview, Highland Park and Skokie. NorthShore employs approximately 10,000 and has 2,400 affiliated physicians, including an 850+ physician, multispecialty group practice with over 100 office locations. Further, NorthShore supports teaching and research as the principal teaching affiliate for the University of Chicago Pritzker School of Medicine.
The NorthShore Research Institute focuses on clinical and translational research, including leadership in clinical trials and medical informatics. The NorthShore University HealthSystem Foundation is the organization’s primary philanthropic entity. The Foundation raises charitable contributions and engages volunteer friends in support of NorthShore’s ongoing mission to preserve and improve human life.
NorthShore has significant capabilities in a wide spectrum of clinical programs, including Kellogg Cancer Center, NorthShore Neurological Institute, NorthShore Orthopaedic Institute, cardiovascular care, high-risk maternity and pediatrics. NorthShore is a Magnet recognized organization, the first in Illinois designated as a system to receive this prestigious honor that demonstrates excellence in nursing. NorthShore is a national leader in the implementation of innovative technologies, including electronic medical records (EMR). In 2003, NorthShore was among the first in the country to successfully launch a system-wide EMR with demonstrable benefits in quality, safety, efficiency and service to patients. NorthShore has been recognized by multiple national organizations for this notable achievement.
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