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Mitochondrial DNA Variation and Disease
Monica Opoka
Cellular Energy
Cellular Energy
Douglas Wallace
Director of the Center for Mitochondrial and Epigenomic Medicine at CHOP
Mitochondria
- Generate more than 90% of cellular energy
- Contain genetic material known as mitochondrial DNA (mtDNA)
Bioenergetics
1
Bioenergetics
mtDNA
mtDNA
Each mitochondria contains multiple copies of mtDNA.
What mtDNA codes for:
Of the 37 mtDNA genes:
- 22 code for making tRNA
- 2 code for producing rRNA
Transfer RNA
Translation
What mtDNA codes for:
Of the 37 mtDNA genes:
- 13 code for making enzymes involved in oxidative phosphorylation
What mtDNA codes for:
The polypeptides encoded by mtDNA include:
- 7 of the 45 polypeptides of complex I
- 1 of the 11 polypeptides of complex III
- 3 of the 13 polypeptides of complex IV
- 17 polypeptides of complex V (ATP synthase)
Mutations
2
Mutations
Timeline
What Wallace discovered
Leber’s hereditary optic neuropathy
1980
since then
1988
mtDNA changes by sequential mutations
other single point mutations in mtDNA
Hetero-plasmy
Heteroplasmy
- Mitochondria can have a mix of mutated and unmutated mtDNA
- Cells can have a mix of defective and non defective mitochondria
Maternal Inheritance
Mitochondria are inherited exclusively from the mother, as the mtDNA that is passed on resides in the cytoplasm of the female egg.
Heteroplasmy and Diseases
mutation 3243G:
Frequency
Disease
10 - 30%
50 - 90%
100%
diabetes or autism
neurological, heart or muscle problems
childhood disease and death
Preventing mtDNA mutations
Somatic Mutations and Aging
Somatic Mutations and Aging
Mutations arise in a cell and are passed on to other cells through cell division
Environment
3
Environment
Human Migration
Radiation of Human mtDNA from Africa
Implications
Migration
- As people migrate all over the world, different mitochondrial variants are mismatched to their current climate and diet
- This explains why many chronic diseases are on the rise