Exploring the role of the immune system in the mitochondrial disease 'Leigh syndrome'

Exploring the role of the immune system as a primary driver of pathology in the mitochondrial disease Leigh syndrome

In a fascinating inaugural lecture, Professor Simon Johnson will share his latest research into a devastating genetic disease. Leigh syndrome is the most common paediatric presentation of genetic mitochondrial disease. Patients are typically born healthy, with signs of disease most often appearing within the first few years of life.

Leigh syndrome is a particularly devastating genetic disorder, with multi organ system involvement and major metabolic and neurologic sequelae such as lactic acidosis and seizures. It’s defining feature is the appearance of symmetrically located progressive necrotising lesions in the brainstem, which are the ultimate cause of death.

Given that over 110 distinct genes are causally linked to Leigh syndrome, putative gene-specific therapies would impact only small subsets of patients. Accordingly, unravelling the mechanisms involved in disease pathogenesis downstream of mitochondria function appears to be the most promising avenue for therapeutic intervention.

Professor Johnson and his team have focused on understanding two particularly striking features of the disease: 1) the curious post-natal onset of disease symptoms and 2) the progressive, symmetric, neuroinflammatory lesions which are the defining features of the disease. 

Professor Johnson will discuss his recent work demonstrating that Leigh syndrome is an immune-mediated disease. He will describe ongoing studies aimed at further unravelling the steps that lead to immune activation and recruitment to the brain lesion sites.

He will also share the recent finding that Leigh syndrome symptoms can be prevented in mice by targeting the immune system, without targeting mitochondrial function. 

He will argue that these new discoveries reframe our understanding of how primary defects in mitochondrial function lead to pathology and open new avenues for therapeutic intervention.

About the Speaker

Simon Johnson is Professor and personal chair of Translational Bioscience in the department of Applied Science at Northumbria University in Newcastle. Professor Johnson is head of Translational Bioscience research group and an Academy of Medical Sciences Professor.

Professor Johnson acts as a scientific advisor for the Cure MITO Foundation and Cure GPX4.