Mitochondrial disease is a group of over 30 metabolic 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 mutation – can cause mitochondrial disease. Looking for which mutation 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. By focusing on the genes that have been shown previously to cause human disease, a targeting next generation sequencing panel can be performed in a shorter period of time than sequencing every gene.