Mitochondrial Disease Panel
When is our genetic test requested?
- For a molecular confirmation of a previous clinical diagnosis.
- To facilitate making decisions when establishing the adequate treatment for the patient.
- To carry out family tests to detect known and specific mutations, previously identified in any affected family member.
Sequencing mitochondrial DNA
Mitochondrial DNA has 37 genes, all of which are essential for a normal functioning. Some of these genes are encoded for enzymes involved in oxidative phosphorylation, which is a process that uses oxygen and simple sugars to create ATP. Some genetic-originated pathologies are related to changes in certain mitochondrial genes.
- Leber hereditary optic neuropathy.
- Leigh’s syndrome.
- Maternally inherited diabetes mellitus and deafness.
- Mitochondrial encephalopathy.
- Myoclonic epilepsy.
- Neuropathy, ataxia and retinitis pigmentosa.
- Non-syndromic deafness.
- Palmoplantar keratoderma-deafness syndrome.
- Progressive external ophthalmoplegia.
Mitochondrial complex I panel
The mitochondrial complex I is the first and highest of the five complexes in the oxidative phosphorylation system. Complex I consists of 45 subunits, seven of which are encoded by mitochondrial DNA and the rest by nuclear genes. The complex I deficiency is the most common defect by oxidative phosphorylation. This panel includes the study of associated nuclear genes with the complex I deficiency, as well as the sequencing of mitochondrial DNA.
Panel 30 genes mitochondrial complex I