What is mitochondrial disease?
Mitochondrial diseases are a group of genetic conditions that can affect any part of the body but primarily affect the brain, muscles, liver, heart, kidneys, eyes, ears, blood, and pancreas. The onset of symptoms can begin at birth or up to adulthood. Although there are no cure for mitochondrial diseases, there are some treatments.
The Mitochondrial Genetics (MitoGen) Clinic at the University of Miami Health System has been established to provide diagnosis, genetic counseling, and potential treatments to individuals affected with mitochondrial genetic conditions. A multidisciplinary team including a clinical geneticist, a genetics counselor, pediatric and adult neurologists, pediatric cardiologists, and pediatric gastroenterologists will provide care and offer potential medical treatments to affected individuals.
Evaluations at the MitoGen clinic include:
- Genetic testing
- Genetic counseling
- Evaluation of additional clinical and/or laboratory findings that can be associated with mitochondrial disease
- Access to research studies on the genetics of mitochondrial disease
- Access to research studies on potential treatments for mitochondrial genetic conditions
The clinical geneticist may offer genetic testing at the end of the clinical evaluation. Many insurance plans pay for these tests.
Families will meet with a genetics counselor and the clinical geneticist to discuss the genetics of mitochondrial diseases. We will also discuss recurrence risk in future pregnancies and the benefits and limitations of genetic testing. Both the genetics counselor and the clinical geneticist will provide support to families and assist families in locating available resources in the community and elsewhere in the world.
Affected individuals will be treated by our multidisciplinary team that includes the clinical geneticist as well as our collaborators in pediatric cardiology (Dr. Juanita Hunter and Dr. Paolo Rusconi) and pediatric neurology (Dr. Alessandra Halle-Milesi and Dr. Lindsay Dudeck). Patients may also be evaluated by our pediatric gastroenterology and hepatology team (Dr. Tamir Miloh and his team) We also collaborate with adult neurology and cardiology teams at the University of Miami. Through a multi-disciplinary collaboration, we aim to provide optimal clinical management to all patients affected with a mitochondrial disease.
Genetics of mitochondrial disease
More than 300 genes are known to cause mitochondrial diseases. These genes can be inherited only from the mother (mitochondrial genome) or from both parents as an autosomal recessive condition (nuclear genome) in the majority of cases. There are many undiscovered genes that may also potentially cause mitochondrial disease. For this reason, some patients may undergo research testing as an option to find the genetic cause of their mitochondrial genetic condition.
Research studies on the genetics and treatment of mitochondrial diseases
There is a research study at the University of Miami Department of Human Genetics and the University of Miami Department of Neurology on the genetics of mitochondrial disease where we aim to attain a molecular diagnosis for each patient affected with a mitochondrial disease. Participation is voluntary.
Mitochondrial Genetics Clinical Director
Tamir Miloh, M.D.
Mitochondrial Genetics Research Laboratory
Stephan Zuchner, M.D.
Mitochondrial disease gene identification
Antonio Barrientos, Ph.D.
Mitochondrial protein biogenesis
Carlos Moraes, Ph.D.
Genetics Research Laboratory
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