Lectures and seminars MolMet webinar: Dr Sarah Pickett | Newcastle University
Welcome to the MolMet webinar with Dr Sarah Pickett, from the University of Newcastle-upon-Tyne UK.
Sarah will be discussing "mtDNA disease: Why are people affected so differently?"
Speaker
Dr Sarah Pickett | Centre for Mitochondrial Research | Newcastle University Biosciences Institute.
In her research, Dr Pickett applies concepts of complex disease genetics to the phenotypic variation observed in mitochondrial diseases.
Title
mtDNA disease: Why are people affected so differently?
Zoom link
Join the meeting via Zoom
Time
10:00 - 11:00 (Stockholm time)
Further reading
Mitochondrial diseases are traditionally defined as oxidative phosphorylation (OXPHOS) defects that result in reduced ATP synthesis capacity. They can be caused by pathogenic variants in both the nuclear and mitochondrial genomes (mtDNA). The mitochondrial genome is a multi-copy genome, continuously replicated, and thus, is not only the severity of a specific variant of importance but also its proportion (heteroplasmy) within a health background.
Thus, mitochondrial diseases can present at any age with a wide range of symptoms and severity, from isolated organ involvement to multi-system dysfunction. However, how other genomic variants influence disease and progression is not known.
Sarah will outline the evidence for nuclear genetic involvement in mtDNA disease and the work she is doing to uncover and characterise these nuclear factors.