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1. Introduction
2. The spectrum of mitochondrial diseases
3. Mitochondrial metabolic pathway
4. Human mtDNA
5. Maternal inheritance of mtDNA I
6. Maternal inheritance of mtDNA II
7. Classic mtDNA diseases
8. MtDNA mutations and disease - I
9. Patient with CPEO
10. Muscle biopsy from patient with CEPO
11. Histochemical staining: CEPO patient biopsy
12. EM of muscle biopsy from patient with CEPO
13. MtDNA mutations I
14. MtDNA mutations II
15. Deletion map of patients with CEPO
16. Progressive and external opthalmoplega
17. MtDNA mutations and disease - II
18. MELAS
19. Brain scan from a patient with MELAS
20. MELAS
21. tRNA Leu (UUR)
22. Protein coding mtDNA mutations
23. Common human mtDNA mutations
24. MtDNA mutations: epidemiology
25. Nuclear mutations of respiratory chain mutations
26. Nuclear gene encoded subunits
27. Components of respiratory chain complexes
28. Nuclear gene mutations of mitochondrial protein
29. Factors controlling oxidative phosphrylation
30. Mt proteins indirectly related to oxidative phos
31. Defects of mitochondrial maintenance
32. Southern blot showing depletion of mtDNA
33. Fatal mtDNA depletion syndrome
34. MtDNA depletion
35. POLG mutations - AuD PEO +/- parkinsonism
36. POLG mutations and PD
37. POLG mutations
38. POLG mutations - Alpers syndrome
39. POLG mutations
40. POLG and ageing
41. Neurodegenerative diseases - PD
42. Aetiology of Parkinson's disease
43. Complex I, GSH and Fe in neurodegeneration
44. Complex I activity in PD substantia nigra
45. Environmental influences on PD causation
46. Environmental influences on PD causation II
47. Network of PD pathogenesis
48. Inherited parkinsonism
49. Mitochondrial dysfunction and park genes
50. Genetic influence on mitochondrial function
51. Neurodegenerative diseases - HD
52. Huntington's disease I
53. Huntington's disease II
54. CAG repeat phenotype-genotype correlation in HD
55. R62 transgenic mouse model
56. Neurodegenerative diseases - FRDA
57. Friedreich's Ataxia: clinical features
58. FA GENE - 1
59. FRATAXIN
60. FRDA: genotype-phenotype
61. Mitochondrial function in cardiac muscle
62. FRDA in vivo biochemical study showing defect
63. GAA repeat genotype-phenotype correlation
64. Endogenous and exogenous toxins
65. Mitochondrial toxins
66. The spectrum of mitochondrial diseases

Topics Covered

• Spectrum of mitochondrial diseases
• Mitochondrial metabolic pathway
• MtDNA mutations and disease
• Pathological features
• MELAS
• Genetic epidemiology of mtDNA mutations
• Structural components of respiratory chain complexes
• Mitochondrial DNA metabolism
• Mitochondrial proteins and oxidative phosphorylation
• Fatal mtDNA depletion syndrome
• POLG mutations
• Environmental influences on PD causation
• PARK genes
• Huntington's disease and mtDNA mutations
• Genetic basis of Friedreich's ataxia
• Mitochondrial toxins

Links

Series:

• Mitochondrial Biogenesis
• Neurodegenerative Diseases

Categories:

• Cell Biology
• Clinical Practice
• Neuroscience

Therapeutic Areas:

• Neurology

Talk Citation

Publication History

• Published on October 1, 2007
• Archived on July 30, 2019

Financial Disclosures

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