Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration

Fecha de publicación: 01/04/2020 Fecha Ahead of Print: 15/04/2020

Autores de IIS La Fe

José María Millán Salvador

Autor
Regina Rodrigo Nicolás

Autor
Teresa Sevilla Mantecón

Autor

Participantes ajenos a IIS La Fe

Espinos, C
Galindo, MI
Garcia-Gimeno, MA
Ibanez-Cabellos, JS
Martinez-Rubio, D
Sanz, P
Seco-Cervera, M
Tapia, A
Pallardo, FV

Grupos

Biomedicina Molecular, Celular y Genómica

Leader

José María Millán Salvador
Patología Neuromuscular y Ataxias

Investigador Principal

Teresa Sevilla Mantecón
Unidad mixta de investigación en enfermedades raras (CIPF)

Leader

José María Millán Salvador

Abstract

Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as glutathione. Oxidative stress plays roles in several pathological processes in the nervous system, such as neurotoxicity, neuroinflammation, ischemic stroke, and neurodegeneration. The concepts of oxidative stress and rare diseases were formulated in the eighties, and since then, the link between them has not stopped growing. The present review aims to expand knowledge in the pathological processes associated with oxidative stress underlying some groups of rare diseases: Friedreich's ataxia, diseases with neurodegeneration with brain iron accumulation, Charcot-Marie-Tooth as an example of rare neuromuscular disorders, inherited retinal dystrophies, progressive myoclonus epilepsies, and pediatric drug-resistant epilepsies. Despite the discrimination between cause and effect may not be easy on many occasions, all these conditions are Mendelian rare diseases that share oxidative stress as a common factor, and this may represent a potential target for therapies.

Datos de la publicación

ISSN/ISSNe:: 2076-3921, 2076-3921
Tipo:: Review
Páginas:: -
DOI:: 10.3390/antiox9040313
Factor de Impacto:: 1,067 SCImago ℠
Cuartil:: Q2 SCImago ℠

Documentos

No hay documentos

Métricas

Filiaciones

Espinos, C:: Ctr Invest Principe Felipe CIPF, Unit Genet & Genom Neuromuscular & Neurodegenerat, Valencia 46012, Spain

Instituto de Investigación. CIPF IIS La Fe, Rare Dis Joint Unit, Valencia 46026, Spain

CIPF INCLIVA, Rare Dis Joint Unit, Valencia 46010, Spain
Galindo, MI:: Univ Valencia, Univ Politecn Valencia, Inst Interuniv Invest Reconocimiento Mol & Desarr, IDM, Valencia 46022, Spain

UPV CIPF Joint Res Unit Dis Mech & Nanomed, Ctr Invest Principe Felipe, Lab Dev Biol & Dis Models, Valencia 46012, Spain
Garcia-Gimeno, MA:: Univ Politecn Valencia, Dept Biotechnol, Escuela Tecn Super Ingn Agronom & Medio Nat ETSIA, Valencia 46022, Spain
Ibanez-Cabellos, JS:: CIPF INCLIVA, Rare Dis Joint Unit, Valencia 46010, Spain

Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain

Univ Valencia UV, Fac Med & Dent, Dept Physiol, Valencia 46010, Spain
Martinez-Rubio, D:: Ctr Invest Principe Felipe CIPF, Unit Genet & Genom Neuromuscular & Neurodegenerat, Valencia 46012, Spain

Instituto de Investigación. CIPF IIS La Fe, Rare Dis Joint Unit, Valencia 46026, Spain

CIPF INCLIVA, Rare Dis Joint Unit, Valencia 46010, Spain
Millan, JM:: Instituto de Investigación. CIPF IIS La Fe, Rare Dis Joint Unit, Valencia 46026, Spain

Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain

Instituto de Investigación. IIS La Fe, Mol Cellular & Genom Biomed Unit, Valencia 46026, Spain
Rodrigo, R:: Instituto de Investigación. CIPF IIS La Fe, Rare Dis Joint Unit, Valencia 46026, Spain

Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain

Ctr Invest Principe Felipe CIPF, Pathophysiol & Therapies Vis Disorders Unit, Valencia 46012, Spain
Sanz, P:: Ctr Invest Principe Felipe CIPF, CSIC Associated Unit, Inst Biomed Valencia IBV, Valencia 46010, Spain

Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain

CSIC, Inst Biomed Valencia, Nutrientmediated Signaling Unit, Valencia 46010, Spain
Seco-Cervera, M:: CIPF INCLIVA, Rare Dis Joint Unit, Valencia 46010, Spain

Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain

Univ Valencia UV, Fac Med & Dent, Dept Physiol, Valencia 46010, Spain
SEVILLA, T:: Instituto de Investigación. CIPF IIS La Fe, Rare Dis Joint Unit, Valencia 46026, Spain

Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain

Hosp Univ & Politecn La Fe, Dept Neurol, Valencia 46026, Spain
Tapia, A:: UPV CIPF Joint Res Unit Dis Mech & Nanomed, Ctr Invest Principe Felipe, Lab Dev Biol & Dis Models, Valencia 46012, Spain
Pallardo, FV:: CIPF INCLIVA, Rare Dis Joint Unit, Valencia 46010, Spain

Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain

Univ Valencia UV, Fac Med & Dent, Dept Physiol, Valencia 46010, Spain

Keywords

Friedreich's ataxia; neurodegenerative disorders with brain iron accumulation (NBIA); Charcot-Marie-Tooth disease (CMT); inherited retinal dystrophy (IRD); progressive myoclonus epilepsy (PME); Unverricht-Lundborg disease (ULD); Lafora disease (LD); Dravet syndrome

Proyectos asociados

CARACTERIZACION MOLECULAR DE PACIENTES CON SINDROME DE USHER. ESTUDIO DE LOS GENES RESPONSABLES: CDH23 Y PCDH15 Y CANDIDATOS: WHRN, CXADR Y PDZK7

Investigador Principal: JOSÉ MARÍA MILLÁN SALVADOR

PI07/0558 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2008

MOLECULAR MAECHANISMS OF RETINAL DEGENERATION IN HUMANS WITH RETINITIS PIGMENTOSA. ROLE OF INFLAMMATION, OXIDATIVE STRESS AND GLIAL ACTIVATION

CP09/00118 (MIGUEL SERVET) . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010

RED DE BIOBANCOS (BIOBANCOS)

RD09/0076/00021 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010

CARACTERIZACION MOLECULAR EN PACIENTES CON SINDROME DE USHER TIPO I MEDIANTE LA APLICACION DE LAS TECNICAS DE SECUENCIACION Y CGH-ARRAY EN GENES RESPONSABLES Y GENES CANDIDATOS

FPU_AP2009-3344 . MINISTERIO DE EDUCACION, CULTURA Y DEPORTE; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010