My name is Jan-Willem Taanman,
I'm at the Department of Clinical Neurosciences
of the Institute of Neurology at University College London.
This lecture is on Mitochondrial Disorders and Neurodegeneration.
So in this lecture,
I will first discuss the mitochondrial structure, function, and genetics.
Then I will give an overview of diseases caused by mutations in mitochondrial DNA,
and finally, I will give an overview of diseases
caused by mutations in nuclear genes coding for mitochondrial proteins.
Mitochondria are essential eukaryotic organelles.
They are the descendants of alphaproteobacteria
that formed an endosymbiotic relationship
with ancestral eukaryotic organisms.
Mitochondria come in different sizes and shapes,
but often form a reticular network as shown here in this cultured multi-nuclear myotube.
Well, mitochondria are not static
but are highly dynamic organelles that undergo continual fission and fusion.
Structurally, mitochondria are characterized by a double membrane;
an outer membrane and an inner membrane that demarcate the intermembrane space,
and the inner membrane protrudes into the matrix to form the cristae membranes.
Well, per definition, all mitochondria are able to carry out two functions,
and that is generation of ATP coupled to electron transport
in a process called oxidative phosphorylation.
Secondly, the expression of an integral genome.
In other words, mitochondria have their own mitochondrial DNA.