Expression of the Cystine-­Glutamate Antiporter with NAC Therapy

Abstract

The X-linked condition cerebral-adrenoleukodystrophy (c-ALD) is characterized by the demyelination of neurons and poor adrenal function. The root cause of these symptoms is the accumulation of long chain fatty acids due to a genetic deficiency in the ABCD1 peroxisomal transporter(3). The resulting oxidative stress likely plays a role in the demyelination of neurons, eventually leading to death if left untreated. Recently, the antioxidant, N-acetyl-cysteine (NAC) has been found to increase overall survival of boys with late-stage childhood c-ALD as adjuvant therapy to stem cell transplant(2). While it is thought that NAC acts as a precursor to cysteine which is used for GSH (a potent endogenous antioxidant) synthesis, the mechanisms of action of NAC are not clear.