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.
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
Note: THE SEQUENCING OF THIS PANEL INCLUDES MITOCHONDRIAL DNA SEQUENCING.
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