Mitochondrial DNA - expression, disease and treatment.

Every human cell carries a second genome inside mitochondria, and when it malfunctions, it can cause devastating multi-system disease. Mitochondrial DNA defects are currently untreatable and linked to common degenerative disorders, yet the fundamental mechanisms of mitochondrial gene expression remain poorly understood. This research aims to close that gap by identifying the critical factors that control how mitochondrial genes are read and translated into proteins, and by pinpointing the specific defects that cause disease. The team also plans to develop methods to prevent transmission of mitochondrial DNA disease from mother to child, and to understand why neurological deficits arise in patients. If successful, this work could lead to new treatments for mitochondrial disorders and clarify whether mitochondrial DNA plays a causal role in common chronic diseases such as Parkinson’s or diabetes. The project is a mix of fundamental science and clinical translation—it will train young researchers and engage with policymakers, but the immediate practical applications are several steps away. Similar fundamental work on mitochondrial biology has already enabled IVF-based techniques to prevent disease inheritance.