Realistic Expectations, Limitations With Gene Therapy for Parkinson Disease: Ignacio Mata, PhD


The associate professor of neurology at the Cleveland Clinic Learner Institute discussed some of the complexities with genetics in Parkinson disease and the ideas behind developing and administering targeted gene therapies. [WATCH TIME: 4 minutes]

WATCH TIME: 4 minutes

WATCH TIME: 4 minutes

"I think for the most common forms of Parkinson disease, which are sporadic, the only way I could see gene therapy helping is with increasing the health of neurons in general, instead of trying to fix every single gene that might be ruined."

As the field of neurology continues to transform from a diagnostic specialty to a therapeutic one, research in the genetic underpinnings of such neurologic diseases, is expanding. While the majority of the environmental risk associated with Parkinson disease (PD) is age, the pathophysiology of the disease is related to the accretion of synuclein alpha (SCNA) protein leading to toxicity. Over time, genome-wide association studies have uncovered over 90 independent risk variants for PD; however, most of them have involved patients with European ancestry.

In December 2023, investigators published a multi-ancestry genome-wide association meta-analysis of PD comprised of 49,049 cases, 18,785 proxy cases, and 2,458,063 controls of individuals of European, East Asian, Latin American, and African ancestry. From the joint cohort analysis, the research identified 66 independent risk loci near previously known PD risk regions and 12 potentially novel risk loci. Of the putative novel loci, 9 had homogeneous effects and 3 had heterogeneous effects across the different cohorts.

While these results add to the growing understanding of genetics in PD, the ideas behind gene therapy in this patient population are extremely complex and require several years of data, lead investigator Ignacio Mata, PhD, told NeurologyLive. In a recent interview, Mata, an associate professor of neurology at the Cleveland Clinic Learner Institute, provided commentary on the different gene therapy approaches currently being tested and whether they would have enough of an impact to change disease progression. Furthermore, He spoke on the current state of gene therapy in PD and the overall outlook of these methods going forward.

1. Kim JJ, Vitale D, Otani DV, et al. Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease. Nature. 2024;56(27-36). doi:10.1038/s41588-023-01584-8
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