Date: 7.4.2011
Researchers have succeeded in identifying a genetic cause of magnesium deficiency. The study from Dr. Dominik Müller of the Department of Pediatric Nephrology, ascertained changes in a gene which is involved in the regulation of magnesium processes. A magnesium deficiency, with symptoms ranging from fatigue and muscle weakness to severe seizures and heart rhythm disturbances, may also be associated with diabetes and high blood pressure. Up until now it has been mostly explained by dietary insufficiencies.
Dr. Müller and his team have now shown that an altered gene may be the cause for this deficiency. Changes in a gene (Cnnm2), entail changes in the human blueprint and thus in the structure and function of protein sequence. In this case, the change affects a protein that is anchored in the membrane of kidney cells and intestinal cells and is responsible for the absorption of magnesium in the blood stream.
Original Paper:
Marchel Stuiver, Sergio Lainez, Constanze Will, Sara Terryn, Dorothee Günzel, Huguette Debaix, Kerstin Sommer, Kathrin Kopplin, Julia Thumfart, Nicole B. Kampik. CNNM2, Encoding a Basolateral Protein Required for Renal Mg2 Handling, Is Mutated in Dominant Hypomagnesemia. The American Journal of Human Genetics, 2011; 88 (3): 333 DOI: 10.1016/j.ajhg.2011.02.005
Source:
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