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Printable Handouts
Navigable Slide Index
- Introduction
- Mitochondrial disorders and neurodegeneration (1)
- Mitochondria- essential eukaryotic organelles (1)
- Mitochondria- essential eukaryotic organelles (2)
- Mitochondria- essential eukaryotic organelles (3)
- Mitochondrial DNA (mtDNA)
- Mitochondrial proteins
- Bioenergetic pathways
- The mitochondrial OXPHOS enzyme system
- The mitochondrial OXPHOS enzyme complexes
- The L and H strands
- The mtDNA D-loop
- Replication of mtDNA
- BrdU detects DNA replicating DNA
- mtDNA replication is independent of the cell cycle
- Initiation of mtDNA replication
- mtDNA shows maternal inheritance
- Maternal inheritance of mtDNA molecular basis
- Mitochondrial disorders and neurodegeneration (2)
- mtDNA mutations (1)
- mtDNA mutations (2)
- The m.3243A>G mtDNA point mutation (1)
- The m.3243A>G mtDNA point mutation (2)
- The m.3243A>G mtDNA point mutation (3)
- Mutations result in a decrease of ATP production
- mtDNA mutations increrase ROS production
- mtDNA point mutations show maternal inheritance
- ART prevent transmission of mtDNA diseases (1)
- ART prevent transmission of mtDNA diseases (2)
- Mitochondrial disorders and neurodegeneration (3)
- Nuclear gene defects in mitochondrial diseases (1)
- Nuclear gene mutations & defects of mtDNA (1)
- Nuclear gene mutations & defects of mtDNA (2)
- Alpers’ disease caused by POLG mutations
- Nuclear gene mutations & defects of mtDNA (3)
- Defects of mt deoxynucleotide synthesis
- BrdU incorporation into replicating DNA
- Southern blot analysis of quiescent fibroblasts
- Nuclear gene defects in mitochondrial diseases (2)
- Friedreich’s ataxia – clinical hallmarks
- Friedreich’s ataxia – pathogenesis
- Nuclear gene defects in mitochondrial diseases (3)
- Hereditary spastic paraplegia – clinical hallmarks
- Hereditary spastic paraplegia – pathogenesis
- Nuclear gene defects in mitochondrial diseases (4)
- Nuclear gene defects in mitochondrial diseases (5)
- Mitochondrial fission and fusion
- Nuclear gene defects in mitochondrial diseases (6)
- Parkinson’s disease – clinical hallmarks
- Parkinson’s disease – pathological hallmarks
- Parkinson’s disease – pathogenesis
- Induction of mitophagy by PINK1 and Parkin
- Mitochondrial disorders and neurodegeneration (4)
Topics Covered
- Mitochondrial structure and function
- Oxidative phosphorylation
- Mitochondrial DNA (mtDNA) structure, replication and maternal inheritance
- Diseases caused by mutations in mtDNA and therapy
- Diseases caused by mutations in nuclear genes coding for mitochondrial proteins
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Taanman, J. (2019, July 31). Mitochondrial disorders and neurodegeneration [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 19, 2025, from https://doi.org/10.69645/THJF1733.Export Citation (RIS)
Publication History
- Published on July 31, 2019
Financial Disclosures
- Dr. Jan-Willem Taanman has received consulting fees/honoraria from Novintum Biosciences Ltd., royalties from Abcam, and research support from The Michael J Fox Foundation.
A selection of talks on Genetics & Epigenetics
Transcript
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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.