Products for Mitochondrial Genetic Disease Research

Genetic diseases affecting Oxidative Phosphorylation (OXPHOS) occur in around 1 in 7000 live births and are also found amongst the adult population. Analysis of these diseases remains problematic. They can occur through mutations in mtDNA and also by mutation of the many proteins encoded on nuclear DNA and transported to the mitochondrion to complete the OXPHOS complexes.

Presently, initial detection of a likely OXPHOS dysfunction is made by activity measurements of individual OXPHOS complexes as well as ATP levels. While such analyses are useful, they are difficult, tedious and require significant amounts of cell culture material or biopsy tissue. Moreover there is considerable overlap between measurements of activities for individuals with clear disease and the ranges of the same activity found in the general population. Further, activity measurements are proving difficult to standardize between laboratories.

MitoSciences now has a protein analysis approach to defining OXPHOS dysfunction which uses antibodies to detect reduced levels of key subunits of each of the OXPHOS complexes and the pyruvate dehydrogenase complex in as few as one plate of cells and from needle biopsy amounts of tissue. The protein analysis tests are fast, reliable and easy to perform as each is provided in kit form. The figure shows a flow chart of these tests and is followed by a set of case studies highlighting their value in differentiating between the many possible causes of OXPHOS dysfunction.

Click the yellow boxes in the diagram below to review the referenced products. There is a link to case studies involving these products at the bottom of the diagram.

Click here to review case studies for these products >

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