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.
