Parkinson’s research opens up for patients with genetic mutations

Patients who carry telltale genetic mutations are being targeted for expanded Parkinson’s research in a major study called the Parkinson’s Progression Markers Initiative, led by The Michael J. Fox Foundation, the advocacy group announced Feb. 25.

Looking more closely at the clinical features, risk factors and the biological make-up of the neurodegenerative disorder as a foundation for future therapeutic and preventative agents is the primary objective of the initiative, which was first launched in 2010.

"Focusing on PD patients and those at risk for [Parkinson’s disease] with genetic mutations will allow us to track the disease process at the earliest stages of illness," commented principal investigator Ken Marek, MD, also senior scientist at the Institute for Neurodegenerative Disorders in New Haven, Conn.

The study will focus on subjects with a LRRK2 or SNCA genetic mutation. Recent developments in Parkinson’s disease therapeutics have been tracking LRRK2 protein kinase and SNCA alpha-synuclein protein. Bits of the latter have been found in the cells of people with Parkinson’s and could be implicated in disease onset. Researchers are hypothesizing that a LRRK2 mutation could increase LRRK2 protein kinase and have an adverse impact on other proteins involved in Parkinson’s pathology.

The goal is to gather 50 people with the SNCA mutation with Parkinson’s and another 50 without the disease. A total of 250 people with the LRRK2 mutation with Parkinson's and another 250 people with the mutation but not the disease are being enrolled for a study period of five years. Certain ethnic groups are known to be more apt to carry the mutation and are therefore a focus of the initiative. These groups include Eastern European Ashkenazi Jewish populations and North African Arab Berber or Basque patients.