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1. Introduction
2. Scheme of presentation
3. The mitochondria
4. Respiratory chain
5. Proteins of respiratory chain
6. Genetic classification (1)
7. Incidence of mitochondrial disease
8. Human mitochondrial DNA
9. Mitochondrial rules
10. Mitochondrial morbidity map - 2005
11. Genetic classification - defects of mtDNA
12. Typical age at onset of mtDNA-related diseases
13. Defects in protein-synthesis genes
14. mtDNA rearrangements
15. Point mutations in tRNA genes
16. MELAS
17. Muscle biopsy of MELAS patients
18. Defects in protein-coding genes
19. A patient's clinical history
20. The ND5 story
21. Muscle biopsy of ND5-mutant patient
22. Mutation in respiratory chain system
23. Typical age at onset of nDNA-related diseases
24. Coenzyme Q (CoQ10, ubiquinone)
25. CoQ10 in the mitochondrial respiratory chain
26. Coenzyme Q10 deficiency (1)
27. Muscle biopsy of patient with myopathy
28. Mutation in COQ2 - important step forward
29. CoQ10 biosynthetic pathway
30. Mutations in genes for respiratory chain subunits
31. Mutations in ancillary proteins
32. Mutations in genes encoding ancillary proteins
33. Defects in intergenomic signalling
34. Multiple deletions and depletion
35. nDNA mutations related to multiple deletions
36. mtDNA depletion
37. Gene defects in mtDNA depletion (1)
38. Mitochondrial nucleoside/nucleotide metabolism
39. Gene defects in mtDNA depletion (2)
40. Alpers syndrome
41. MPV17 gene
42. Navajo nation
43. Navajo neurohepatopathy (NNH)
44. Defect of the lipid milieu
45. Barth syndrome
46. Defects of mitochondrial motility
47. Opposite-polarity motors during transport
48. Mitochondrion on microtubule
49. Defects of mitochondrial motility/fission/fusion
50. Mitochondria?
51. Collaborators at CUMC

Topics Covered

• Mitochondrial functions
• Energy generation via oxidative metabolism
• The respiratory chain
• Mitochondrial DNA (mtDNA)
• Mitochondrial genetics
• A genetic classification of the mitochondrial diseases
• Diseases due to mutations in mtDNA
• mtDNA mutations impairing mitochondrial protein synthesis
• mtDNA mutations in specific protein-coding genes
• Diseases due to mutations in nuclear DNA (nDNA)
• Mutations in nuclear genes encoding subunits of respiratory chain complexes
• Mutations in nuclear genes encoding assembly proteins
• Defects of intergenomic communications
• Defects of the inner mitochondrial membrane lipid milieu

Links

Series:

• Mitochondrial Biogenesis

Categories:

• Cell Biology
• Clinical Practice

Talk Citation

Publication History

• Published on October 1, 2007
• Archived on May 31, 2018

Financial Disclosures

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