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Printable Handouts
Navigable Slide Index
- Introduction
- Mitochondria - overview
- The cristae of the mitochondria
- EM of mitochondria of a heart muscle cell
- A new paradigm of mitochondrial structure
- Mitochondria in art
- Electron transport & oxidative phosphorylation (1)
- Electron transport & oxidative phosphorylation (2)
- High resolution structures of the subunits
- Mitochondrial DNA
- The mitochondrial genome in humans
- Information content of the mt genome
- Map of mitochondrial genome
- Non-Mendelian inheritance
- mtDNA inherited through maternal lineage (1)
- mtDNA inherited through maternal lineage (2)
- mtDNA replication and transcription
- mtDNA replication
- mtDNA transcription
- rRNA, mRNA and tRNA of mitochondria
- Translation
- Mutations in mtDNA
- Myopathies and neuropathies observed clinically
- General features of myopathies and neuropathies
- Is there a genetic basis?
- Heteroplasmy
- Point mutations
- How does heteroplasmy arise?
- Heteroplasmy in humans
- Heteroplasmy in mice
- "Bottleneck" explains the variable heteroplasmy (1)
- "Bottleneck" explains the variable heteroplasmy (2)
- Examples of mitochondrial diseases
- The Kearns-Sayre Syndrome
- Familial Mitochondrial Encephalomyopathy
- Leber's Hereditary Optic Neuropathy
- MELAS
- Neuropathy, Ataxia, Retinitis Pigmentosa
- Cybrids to study mtDNA mutations
- Study of xenomitochondrial cybrids
- Primate evolution
- Cybrids as stem cells
- Nuclear mutations
- Summary of nuclear and mt mutations
- Mitochondrial DNA deletion syndrome
- Mitochondrial DNA depletion syndrome
- Mitochondrial mutations and aging
- Reactive oxygen species (ROS)
- Damages from ROS
- Anti-oxidants
- Fountain of youth
- Neurodegenerative diseases
- Cellular garbage disposal
- The metabolic syndrome
- Concluding remark
Topics Covered
- Mitochondria: structure and function
- Mitchell's chemiosmotic hypothesis
- The mammalian mitochondrial genome: replication
- Transcription
- Gene expression
- Non-Mendelian inheritance of mtDNA
- Mutations and heteroplasmy
- Mitochondrial diseases
- Reactive oxygen species and aging
- Mitochondria and neurodegenerative diseases
- The metabolic syndrome
Talk Citation
Scheffler, I. (2009, December 28). Mitochondrial DNA, molecular genetics and human mitochondrial diseases [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 3, 2024, from https://doi.org/10.69645/QWBH1882.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Immo Scheffler has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Mitochondrial DNA, molecular genetics and human mitochondrial diseases
A selection of talks on Genetics & Epigenetics
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