Abstract: More than 300 million individuals worldwide are affected by genetic disorders. More than half of these individuals remain undiagnosed for years, sometimes for their entire lives, causing a significant economic and social burden. My current research focuses on identifying new disease-causing genes in humans, which helps in the diagnosis and allows us to investigate the molecular underpinnings of neurodegenerative diseases with an emphasis on mitochondrial and metabolic dysfunctions. To this end, I used 'humanized' fruit flies to show that de novo mutation in TOMM70, which encodes an outer mitochondrial membrane protein translocase, causes pediatric-onset neurodegeneration. My recent work, using fruit flies and patient-derived cells, uncovered that the loss of Mitochondrial Enoyl CoA Reductase, an enzyme required for fatty acid synthesis in mitochondria, impairs iron metabolism, leads to sphingolipid accumulation, and ultimately causes neurodegeneration in children with MEPAN (Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration) syndrome. I will expand on these studies to demonstrate how a human-fruit fly approach can lead to medical discoveries. Furthermore, I will share my future research plan, where I aim to investigate the mechanisms of mitochondrial iron and sphingolipid metabolism and how impairments in these metabolic pathways lead to neurodegeneration.

Meeting ID: 969 6450 4878
Passcode: 666418