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1. Introduction
2. Mitochondria - overview
3. The cristae of the mitochondria
4. EM of mitochondria of a heart muscle cell
5. A new paradigm of mitochondrial structure
6. Mitochondria in art
7. Electron transport & oxidative phosphorylation (1)
8. Electron transport & oxidative phosphorylation (2)
9. High resolution structures of the subunits
10. Mitochondrial DNA
11. The mitochondrial genome in humans
12. Information content of the mt genome
13. Map of mitochondrial genome
14. Non-Mendelian inheritance
15. mtDNA inherited through maternal lineage (1)
16. mtDNA inherited through maternal lineage (2)
17. mtDNA replication and transcription
18. mtDNA replication
19. mtDNA transcription
20. rRNA, mRNA and tRNA of mitochondria
21. Translation
22. Mutations in mtDNA
23. Myopathies and neuropathies observed clinically
24. General features of myopathies and neuropathies
25. Is there a genetic basis?
26. Heteroplasmy
27. Point mutations
28. How does heteroplasmy arise?
29. Heteroplasmy in humans
30. Heteroplasmy in mice
31. "Bottleneck" explains the variable heteroplasmy (1)
32. "Bottleneck" explains the variable heteroplasmy (2)
33. Examples of mitochondrial diseases
34. The Kearns-Sayre Syndrome
35. Familial Mitochondrial Encephalomyopathy
36. Leber's Hereditary Optic Neuropathy
37. MELAS
38. Neuropathy, Ataxia, Retinitis Pigmentosa
39. Cybrids to study mtDNA mutations
40. Study of xenomitochondrial cybrids
41. Primate evolution
42. Cybrids as stem cells
43. Nuclear mutations
44. Summary of nuclear and mt mutations
45. Mitochondrial DNA deletion syndrome
46. Mitochondrial DNA depletion syndrome
47. Mitochondrial mutations and aging
48. Reactive oxygen species (ROS)
49. Damages from ROS
50. Anti-oxidants
51. Fountain of youth
52. Neurodegenerative diseases
53. Cellular garbage disposal
54. The metabolic syndrome
55. 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

Links

Series:

• Introduction to Human Genetics

Categories:

• Clinical Practice
• Genetics & Epigenetics

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 April 15, 2025, from https://doi.org/10.69645/QWBH1882.
Export Citation (RIS)

Publication History

• Published on December 28, 2009
• Archived on September 8, 2024

Financial Disclosures

• Prof. Immo Scheffler has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.