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Abstract
BackgroundAcute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes. Two main hypotheses explain the pathogenesis of nervous system dysfunction: (a) the ROS generation by autooxidation of 5‐aminolevulinic acid accumulated in liver and brain; (b) liver heme deficiency and in neural tissues that generate an oxidative status, a component of the neurodegenerative process.MethodsWe review results obtained from Acute Intermittent Porphyria (AIP) and Variegate Porphyria (VP) families studied at clinical, biochemical, and molecular level at the CIPYP in Argentina. The relationship between the porphyric attack and oxidative stress was also evaluated in AHP patients and controls, to identify a marker of neurological dysfunction.ResultsWe studied 116 AIP families and 30 VP families, 609 and 132 individuals, respectively. Genotype/phenotype relation was studied. Oxidative stress parameters and plasma homocysteine levels were measured in 20 healthy volunteers, 22 AIP and 12 VP individuals.ConclusionNo significant difference in oxidative stress parameters and homocysteine levels between the analyzed groups were found.
Highlights
Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes
There is a hypothesis which states that aminolevulinic acid (ALA) can oxidase itself generating Reactive Oxygen Species (ROS) which increase the oxidative stress in the cell, explaining the porphyric attack (Onuki et al, 2004)
We review same results obtained from the Acute Intermittent Porphyria (AIP) and Variegate Porphyria (VP) families studied at biochemical and molecular level at the CIPYP in Argentina (Cerbino et al, 2015; Rossetti, Granata, Giudice, Parera, & Batlle, 2008)
Summary
The porphyrias are a group of genetic metabolic disorders caused by the partial deficiency of one of the enzymes involved in the heme biosynthetic pathway. There is a hypothesis which states that ALA can oxidase itself generating Reactive Oxygen Species (ROS) which increase the oxidative stress in the cell, explaining the porphyric attack (Onuki et al, 2004) Another hypothesis is based on heme deficiency in liver and neural tissues impairing critical processes depending on hemoproteins (Dwyer et al, 2006). There are alterations of heme biosynthetic pathway associated with Alzheimer's disease, where the oxidative damage is present since early stages with neurological dysfunction (Atamna & Frey, 2004) This is due to an oxidative stress as a consequence of an elevation of homocysteine levels in plasma which mobilizes iron storage from ferritin (Dwyer, Raina, Perry, & Smith, 2004). Taking into account the relationship between the porphyric attack and oxidative stress, we decided to study oxidative stress parameters and homocysteine levels in AHP patients and controls, to identify a marker of neurological dysfunction
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