Mitochondrial disorders and neurodegeneration

Published on July 31, 2019   42 min

Other Talks in the Therapeutic Area: Neurology

0:00
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.
0:16
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.
0:40
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.
1:16
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.
1:33
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.
Hide

Mitochondrial disorders and neurodegeneration

Embed in course/own notes