New gene for Parkinson’s Disease discovered

New research published in the scientific journal Nature Genetics describes the discovery of a gene responsible for a heritable form of Parkinson’s Disease.

Three Irish scientists played leading roles in study, including Dr Kevin Kenna and Brendan Kenna based at University Medical Center Utrecht in the Netherlands and Prof Owen Ross who leads the Parkinson’s Disease laboratory at the Mayo Clinic in Jackonsville, Florida.

The findings provide important new insights that will help guide future lines of Parkinson’s disease research. 

Largest genetic study of familial Parkinson’s Disease

The study analyzed DNA from over 2,100 Parkinson’s disease patients as well as 70,000 healthy volunteers. All patients came from families with a known history of the disease, in-keeping with potential contributions from undiscovered genetic risk factors.

The researchers searched for causative gene mutations using specialized statistical analyses and computational infrastructure that was tailored to mining large volumes of DNA sequencing data.

The project, which was coordinated by Prof John Landers (USA), Prof Tatianna Foroud (USA) and Dr Kenna was a collaboration between 5 research institutes in the Netherlands, Italy and USA.

Discovery of mutation in RAB32 sheds light on hereditary Parkinson’s

Data analyses performed by lead authors Paul Hop (Netherlands) and Dongbing Lai (USA) revealed a mutation in the RAB32 gene that significantly increased the risk of Parkinson’s disease.

The team studied the effect of this mutation in laboratory grown cells to eluciate biological mechanisms through which it might disrupt normal bodily functions. The team discovered that the RAB32 mutation led to abnormal increases in the activity of a key Parkinson’s related protein called LRRK2. Such abnormal increases in LRRK2 activity are known to be important in Parkinson’s and are already being explored as a potential target for therapeutic interventions.

Until now, only a handful of genes have been definitively implicated in heritable forms of Parkinson’s disease. The discovery of the RAB32 mutation and it’s effect on the LRRK2 protein are therefore an important step forward.

Click here to access the full study.