Apparent mineralocorticoid excess syndrome Apparent mineralocorticoid excess syndrome Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). It was found by Dr Maria I. New at Weil Cornell Hospital in New York City. It results from mutations in the "HSD11B2" gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less active metabolite cortisone. The inactivating mutation leads to elevated local concentrations of cortisol in the aldosterone sensitive tissues like the kidney. Cortisol at high concentrations can cross-react and activate
Blood–brain barrier more likely, aggravated) by a breakdown in the blood–brain barrier. Cerebral edema is the accumulation of excess water in the extracellular space of the brain, which can result when hypoxia causes the blood–brain barrier to open. Many neurodegenerative diseases including synucleinopathies such as Parkinson's, and tauopathies such as Alzheimer's are thought to result from seeded misfolding from pathological extracellular protein variants known as prions. This prion-like hypothesis is gaining support in numerous studies in vitro and involving in vivo intracerebral injection of brain lysates, extracted protein (tau, alpha-synuclein) and synthetically generated fibers in alpha-synucleinopathies. These proteins are also detectable in