Mitochondrial diseases are a group of over 30 diseases that interfere with the body’s ability to make energy. Younger patients often have more severe forms of the disease with seizures, growth and developmental problems, hearing and vision problems, and multiple organ dysfunction. Older patients can have muscle weakness, problems with balance leading them to fall, have strokes and dementia.
Mitochondrial diseases are all genetic diseases. Genes carry the information on how our bodies function. A problem with a gene, which can be a small spelling mistake in the genetic code called a variant – can cause mitochondrial disease. Looking for which variant is causing mitochondrial disease by checking each of the 1,000 mitochondrial genes has not been possible with older technology. Newer technology now exists to look at the genes, which is called next generation sequencing.
Next generation sequencing can look at thousands of genes as a single test which can reduce the time it takes to find the gene that may be causing symptoms. If a gene variant is found, this could mean many patients may not need a muscle biopsy, lumbar puncture, brain MRI, or other procedures to help find a diagnosis and the focus would shift from trying to find a diagnosis to providing care for their condition.
The Mito-FIND project is committed to facilitating DNA testing for patients showing signs and/or symptoms of mitochondrial disease as determined by their physician.
To establish the fastest, least invasive, and least expensive method of diagnosing mitochondrial disease using targeted next generation sequencing to identify the causative gene and test whether this gene change causes an abnormality in mitochondrial function.
How it Works
Participants interested in participating are asked to contact the research coordinator for more information. The research coordinator will review the objective, inclusion and exclusion criteria, and what they have to do. Participants that wish to enroll will be sent a consent form.
Potential participants are eligible if they have all the following:
- Referral to the research team of a potential participant who is suspected of having a mitochondrial disease. Referral may be made by the potential participant or by a specialist.
Potential participants are NOT eligible if they have any of the following:
- The presence of severe inflammatory reaction (such as sepsis) during the time of investigation.
- Patients diagnosed from a positive family history and known familial mutation.
For more information, please contact us at: email@example.com
This study has been approved by the University of Calgary Conjoint Health Research Ethics Board (Ethics ID#: REB13-0753)
The Mito-FIND research team extends their sincerest thanks to the following sponsors: