Exogenous markers for the characterization of human diseases associated with oxidative stress

Vaya, Jacob

doi:10.1016/j.biochi.2012.03.005

Cited by 19 publications

(13 citation statements)

References 19 publications

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“…Oxidative stress is implicated in the pathology of many inborn errors of metabolism (IEMs), especially those with neuropsychiatric involvement (Vaya 2013; Fransen et al 2012; Ng et al 2008). Oxidative damage is also purported to have a role in the pathophysiology of other neuropsychiatric disorders such as schizophrenia, bipolar disorder, depression and anxiety, ADHD and autism (Ng et al 2008), and a recent report revealed elevated biomarkers of oxidative damage in physiological fluids derived from patients with autism (Pecorelli, 2012).…”

Section: Pathophysiological Mechanisms In Ssadhdmentioning

confidence: 99%

Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism

Malaspina

Roullet

Pearl

et al. 2016

Neurochemistry International

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Discovered some 35 years ago, succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a rare, autosomal recessively-inherited defect in the second step of the GABA degradative pathway. Some 200 patients have been reported, with broad phenotypic and genotypic heterogeneity. SSADHD represents an unusual neurometabolic disorder in which two neuromodulatory agents, GABA (and the GABA analogue, 4-hydroxybutyrate), accumulate to supraphysiological levels. The unexpected occurrence of epilepsy in several patients is counterintuitive in view of the hyperGABAergic state, in which sedation might be expected. However, the epileptic status of some patients is most likely represented by broader imbalances of GABAergic and glutamatergic neurotransmission. Cumulative research encompassing decades of basic and clinical study of SSADHD reveal a monogenic disease with broad pathophysiological and clinical phenotypes. Numerous metabolic perturbations unmasked in SSADHD include alterations in oxidative stress parameters, dysregulation of autophagy and mitophagy, dysregulation of both inhibitory and excitatory neurotransmitters and gene expression, and unique subsets of SNP alterations of the SSADH gene (so-called ALDH5A1, or aldehyde dehydrogenase 5A1 gene) on the 6p22 chromosomal arm. While seemingly difficult to collate and interpret, these anomalies have continued to open novel pathways for pharmacotherapeutic considerations. Here, we present an update on selected aspects of SSADHD, the ALDH5A1 gene, and future avenues for research on this rare disorder of GABA metabolism.

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Section: Pathophysiological Mechanisms In Ssadhdmentioning

confidence: 99%

Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism

Malaspina

Roullet

Pearl

et al. 2016

Neurochemistry International

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“…Oxidative stress is a state of disturbed equilibrium between antioxidative mechanisms of the cell and production of reactive oxygen species (ROS) [Migdal & Serres, ]. Prolonged exposure to elevated levels of ROS leads to the development of various pathological processes that influence human health [Vaya, ]. Increased level of oxidative stress is linked to atherosclerosis [Drummond, Selemidis, Griendling, & Sobey, ], cancer, aging, complications in diabetes [Vaya, ], autoimmune [Weiskopf et al., ], and neurological disorders [Hayashi, Miyata, & Tanuma, ].…”

Section: Introductionmentioning

confidence: 99%

Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder

Kovač

Lukšič²,

Podkrajšek

et al. 2013

Autism Research

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Oxidative stress is suspected to be one of the several contributing factors in the etiology of autism spectrum disorder (ASD). We analyzed genes of the superoxide dismutase family (SOD1, SOD2, and SOD3) that are part of a major antioxidative stress system in human in order to detect the genetic variants contributing to the development of ASD. Using the optimized high-resolution melting (HRM) analysis, we identified two rare single nucleotide polymorphisms (SNPs) associated with the etiology of ASD. Both are located in the superoxide dismutase 1 (SOD1) gene and have a minor allele frequency in healthy population ~5%. The SNP c.239 + 34A>C (rs2234694) and SNP g.3341C>G (rs36233090) were detected with an odds ratio of 2.65 and P < 0.01. Both are located in the noncoding potentially regulatory regions of the SOD1 gene. This adds to the importance of rare SNPs in the etiology of complex diseases as well as to the importance of noncoding genetic variants analysis with a potential influence on the regulation of gene expression.

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“…Oxidative stress is a phenomenon resulting from an imbalance between ROS production and antioxidant as well as free radical scavenging systems . Oxidative stress, in particular, the iron-mediated oxidative brain damage, seems to be a crucial factor in provoking neuronal death and is thus implicated in many age-related neurodegenerative disorders including AD and Parkinson's diseases (PD) (Padurariu et al, 2010;Vaya, 2013;Ward et al, 2014). Furthermore, due to the brain's higher oxygen metabolism and limited capacity of regeneration, oxidative stress (Ward et al, 2014;Daugherty and Raz, 2015) is considered an important role player in the brain ageing and its associated cognitive and functional impairment (Haddadi et al, 2014).…”

Section: Oxidative Stressmentioning

confidence: 99%

Revisiting nicotine’s role in the ageing brain and cognitive impairment

Majdi

Kamari

Vafaee

et al. 2017

Reviews in the Neurosciences

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AbstractBrain ageing is a complex process which in its pathologic form is associated with learning and memory dysfunction or cognitive impairment. During ageing, changes in cholinergic innervations and reduced acetylcholinergic tonus may trigger a series of molecular pathways participating in oxidative stress, excitotoxicity, amyloid-β toxicity, apoptosis, neuroinflammation, and perturb neurotrophic factors in the brain. Nicotine is an exogenous agonist of nicotinic acetylcholine receptors (nAChRs) and acts as a pharmacological chaperone in the regulation of nAChR expression, potentially intervening in age-related changes in diverse molecular pathways leading to pathology. Although nicotine has therapeutic potential, paradoxical effects have been reported, possibly due to its inverted U-shape dose-response effects or pharmacokinetic factors. Additionally, nicotine administration should result in optimum therapeutic effects without imparting abuse potential or toxicity. Overall, this review aims to compile the previous and most recent data on nicotine and its effects on cognition-related mechanisms and age-related cognitive impairment.

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Exogenous markers for the characterization of human diseases associated with oxidative stress

Cited by 19 publications

References 19 publications

Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism

Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism

Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder

Revisiting nicotine’s role in the ageing brain and cognitive impairment

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