title: Oxidative damage and redox in Lysosomal Storage Disorders: Biochemical markers.
abstract: Lysosomal Storage Disorders (LSD) comprise a heterogeneous group of >50 genetic disorders caused by mutations in genes that encode lysosomal enzymes, transport proteins or other gene products essential for a functional lysosomal system. As a result, abnormal accumulation of substrates within the lysosome leads to a progressive cellular impairment and dysfunction of numerous organs and systems. The exact mechanisms underlying the pathophysiology of LSD remain obscure. Previous studies proposed a relationship between oxidative stress and the pathogenesis of several inborn errors of metabolism, including LSD. Considering these points, in this paper it was reviewed oxidative stress and emerging antioxidant therapy in LSD, emphasizing studies with biological samples from patients affected by this group of conditions. These studies allow presuming that metabolites accumulated in LSD cause an increase of lysosomes' number and size, which may induce excessive production of reactive species and/or deplete the tissue antioxidant capacity, leading to damage in biomolecules. In vitro and in vivo evidence showed that cell oxidative process occurs in LSD and probably contributes to the pathophysiology of these disorders. In this context, it is possible to suggest that, in the future, antioxidants could come to be used as adjuvant therapy for LSD patients.
authors.affiliation: Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, UFRGS, Porto Alegre, RS, Brazil. Electronic address: donida.bruna@gmail.com.
authors.forename: Bruna
authors.initials: B
authors.lastname: Donida
authors.affiliation: Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, UFRGS, Porto Alegre, RS, Brazil. Electronic address: carloseduardo.jacques@hotmail.com.
authors.forename: Carlos Eduardo Diaz
authors.initials: CED
authors.lastname: Jacques
authors.affiliation: Programa de Pós-Graduação em Ciências Farmacêuticas, UFRGS, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, Porto Alegre, RS, Brazil. Electronic address: carolmescka@yahoo.com.br.
authors.forename: Caroline Paula
authors.initials: CP
authors.lastname: Mescka
authors.affiliation: Programa de Pós-Graduação em Ciências Farmacêuticas, UFRGS, Porto Alegre, RS, Brazil. Electronic address: daianegbr@hotmail.com.
authors.forename: Daiane Grigolo Bardemaker
authors.initials: DGB
authors.lastname: Rodrigues
authors.affiliation: Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, UFRGS, Porto Alegre, RS, Brazil. Electronic address: desireepmarchetti@gmail.com.
authors.forename: Desirèe Padilha
authors.initials: DP
authors.lastname: Marchetti
authors.affiliation: Programa de Pós-Graduação em Saúde da Criança e do Adolescente, UFRGS, Porto Alegre, RS, Brazil. Electronic address: grazielaribas@yahoo.com.br.
authors.forename: Graziela
authors.initials: G
authors.lastname: Ribas
authors.affiliation: Serviço de Genética Médica, HCPA, Porto Alegre, RS, Brazil; Departamento de Genética, e Programa de Pós-Graduação em Genética e Biologia Molecular, Instituto de Biociências, UFRGS, Porto Alegre, RS, Brazil. Electronic address: rgiugliani@hcpa.edu.br.
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.affiliation: Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, UFRGS, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, UFRGS, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, Porto Alegre, RS, Brazil. Electronic address: crvargas@hcpa.edu.br.
authors.forename: Carmen Regla
authors.initials: CR
authors.lastname: Vargas
mesh_terms: D000975:Antioxidants / Q000627:therapeutic use; D015415:Biomarkers / Q000032:analysis; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000378:metabolism / Q000503:physiopathology*; D010084:Oxidation-Reduction / Q000187:drug effects; D018384:Oxidative Stress / Q000187:drug effects / Q000502:physiology
chemical_list: D000975:Antioxidants; D015415:Biomarkers
keywords: Lysosomal Storage Disorders; Oxidative damage; Oxidative stress; Reactive species