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              - Archived Lectures *These may not cover the latest advances in the field
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                                1. Introduction to cytogenetics 3- Dr. Sioban SenGupta
 
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                                2. Population genetics- Dr. Murray P. Cox
 
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                                3. Inference on human history through DNA- Prof. Guido Barbujani
 
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                                4. Human adaptation- Prof. Rasmus Nielsen
 
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                                5. Accessing and using ENCODE data- Prof. Peggy Farnham
 
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                                6. Pharmacogenetics- Prof. Ann Daly
 
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                                7. Genetics in forensics- Dr. Angel Carracedo
 
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                                8. The development and evolution of human gene therapy- Prof. Theodore Friedmann
 
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                                9. Next generation sequencing technologies- Dr. Krishna Veeramah
 
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                                10. Copy number variation- Dr. Ömer Gökçümen
 
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                                11. Molecular structure of the human genome- Prof. Jonathan Wolfe
 
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                                12. Genome mapping- Dr. Simon Gregory
 
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                                13. Mitochondrial DNA, molecular genetics and human mitochondrial diseases- Prof. Immo Scheffler
 
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                                14. Techniques utilized in molecular genetics- Dr. Cecil Lewis
 
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                                15. Introduction to mutation and disease- Prof. Jonathan Wolfe
 
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                                16. Introduction to genetic diseases- Prof. Jonathan Wolfe
 
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                                17. Introduction to cytogenetics 2- Dr. Sioban SenGupta
 
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                                18. Introduction to cytogenetics 1- Dr. Sioban SenGupta
 
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                                19. Genetic association studies- Prof. David Balding
 
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                                20. The Y-chromosome- Prof. Mark Jobling
 
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                                21. Quantitative genetics and multifactorial inheritance- Dr. Lara Bauman
 
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                                22. Historical introduction to human diversity II- Prof. Dallas Swallow
 
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                                23. Mechanisms of DNA repair by recombination- Prof. James Haber
 
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                                24. Historical introduction to human diversity I- Prof. Dallas Swallow
 
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 October 31, 2025, 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 Clinical Practice
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