About 100 years after the first formal description of PXE, a major milestone has been reached with the discovery of the causative mutations in the ABCC6 gene. However, the unsuspected role of a transmembrane transporter protein in liver and kidneys, far away from the affected organs, has raised many questions that remain to be answered.

Current hypothesis favors a metabolic pathway of disease development. Impaired excretion of a yet unidentified substance via urine or bile may lead to its resorption into the systemic circulation with adherence and subsequent trauma to the elastic fiber network and secondary deposition of calcium. Alternatively, a nonfunctional MRP6 pump may switch on an alternative mechanism of excretion in liver and kidneys that indirectly causes trauma to the elastic fiber network by removal of essential factors.

In addition, there is currently little evidence to suggest that certain mutations or combinations thereof elicit a specific phenotype. These observations emphasize the role of possible environmental factors as determinants of disease extent and severity, a question that may be resolved once adequate animal models for PXE become available.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook

Post a comment