Dr. Richard Haas from University of California San Diego discusses practical approaches to a Mito diagnosis:
- Background and function of mitochondria, mitochondrialRelated to the mitochondria. disease, and problems caused by mitochondrial dysfunctionThis is when mitochondria do not work as well as they should due to another disease or condition. Many conditions can lead to secondary dysfunction.
- Mitochondrial genetics, in brief
- Classification of Mito Diseases
- Difficulty in diagnosing mtDNA disease
- Inherent problems in diagnosis/diagnostic approaches of both OXPHOS and mtDNA disease
- Testing, in brief, including advantages and limitations of new nDNA gene sequencing
- Clues to the diagnosis of mitochondrial disease for clinicians (and families)
- How does one eventually arrive at a dx of Mito disease?
- Why are more invasive tests (i.e. muscle biopsy) sometimes necessary?
- How is the field of mitochondrial medicine changing? Are there new types of mitochondrial disease? What may the future look like for this field and for patients/families?
