Combined Mineralocorticoid and Glucocorticoid deficiency is caused by a novel founder Nicotinamide Nucleotide Transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

The novel and ancestral NNT mutation, p.G200S, which was identified in two unrelated consanguineous families, expands the glucocorticoid deficiency phenotype of NNT mutations to include also mineralocorticoid deficiency; and thus present in early life with severe salt loss, low blood pressure and hypoglycemia. We provide the first patient-based evidence that NNT mutations induce oxidative stress which result in morphological and functional mitochondrial defects – the energy producing factory in each cell. Thus, NNT is crucial for mitochondrial function in the human adrenal gland and NNT mutations should be considered in diagnosis of early life adrenal crisis. (By Dr. Ariella Weinberg-Shukron, http://jmg.bmj.com/content/early/2015/06/12/jmedgenet-2015-103078 )

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