Abstract
Sulfite oxidase (SO) deficiency is an autosomal recessive inherited neurometabolic disease caused by deficient activity of SO. It is biochemically characterized by tissue accumulation and high urinary excretion of sulfite, thiosulfate, and S-sulfocysteine. Severe neurological symptoms, including neonatal seizures, encephalopathy, and psychomotor retardation, are commonly observed in the affected patients, but the pathogenesis of the neurologic dysfunction is still poorly understood. In this minireview, we will briefly summarize the knowledge obtained from in vivo and in vitro findings from animal studies indicating that oxidative stress and mitochondrial dysfunction are involved in the pathophysiology of the brain damage in this disease. Recent reports have shown that sulfite induces free radical generation, impairs brain antioxidant defenses, and disturbs mitochondrial energy metabolism and biogenesis. Moreover, it has been evidenced that free radical scavengers and the pan-PPAR agonist bezafibrate are able to prevent most deleterious effects elicited by sulfite on the brain. These promising data offer new perspectives for potential therapeutic strategies for this condition, which may include the early use of appropriate antioxidants and PPAR agonists in addition to the available treatment.
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Funding
We thank the financial support of Edital Universal do Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), Programa de Apoio a Núcleos de Excelência (PRONEX II), Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS), Pró-Reitoria de Pesquisa/Universidade Federal do Rio Grande do Sul (PROPESQ/UFRGS), Financiadora de estudos e projetos (FINEP), Rede Instituto Brasileiro de Neurociência (IBN-Net) no. 01.06.0842-00, and Instituto Nacional de Ciência e Tecnologia em Excitotoxicidade e Neuroproteção (INCT-EN) that were essential for the experimental work referred in various parts of this review.
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Wyse, A.T.S., Grings, M., Wajner, M. et al. The Role of Oxidative Stress and Bioenergetic Dysfunction in Sulfite Oxidase Deficiency: Insights from Animal Models. Neurotox Res 35, 484–494 (2019). https://doi.org/10.1007/s12640-018-9986-z
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DOI: https://doi.org/10.1007/s12640-018-9986-z