Fabio Demontis, PhD

Name of Institution:

St. Jude Children’s Research Hospital, Memphis, Tennessee

Project Title:
Investigating the common proteomic changes induced by aging and by LRRK2 mutations and their role in Parkinson’s disease.

Investigator:
Fabio Demontis, PhD

Dr. DeMontis obtained his PhD from the Max Planck Institute for Cell Biology and Genetics in Germany and trained as postdoctoral fellow in the Department of Genetics at Harvard Medical School. As Assistant Professor at St. Jude Children’s Research Hospital, his lab investigates the molecular and cellular mechanisms of neuromuscular aging and how endocrine signaling factors secreted by muscle (myokines) affect aging and the progression of age-related diseases in other tissues such as the brain.

Research Objectives and Relevance to Diagnosis/Treatment of PD:

Aging is one of the most important risk factors in PD. However, it is largely unknown how age interacts with the genetic pathways that drive Parkinson’s Disease pathogenesis. Genetic mutations of leucine-rich repeat kinase 2 (LRRK2) are the most common genetic causes of Parkinson’s Disease and typically result in young onset PD. The hypothesis is that LRRK2 mutations accelerate the appearance of some of the proteomic changes that are otherwise only seen in older ages. The goal of this research is to identify the overlapping proteomic changes induced by aging and by LRRK2 mutations and test the role of these proteins in mitochondrial dysfunction, which is relevant for PD.

This project will help define key proteins and cell biological mechanisms by which aging influences Parkinson’s Disease pathogenesis, which may provide a basis for therapeutic interventions in humans.