Regina Rodrigo

Centre for Biomedical Network Research on Rare Diseases

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Vicente Felipo

Centro de Investigacion Principe Felipe

Omar Cauli

Universitat de València

José M. Millán

Instituto de Investigación Sanitaria La Fe

Marta Llansola

Centro de Investigacion Principe Felipe

Lorena Olivares‐González

Instituto de Investigación de Enfermedades Raras

Carmina Montoliú

Universitat de València

Slaven Erceg

Centro de Investigacion Principe Felipe

Ana Agustí

Instituto de Agroquímica y Tecnología de Alimentos

Nisrin El Mlili

Abdelmalek Essaâdi University

Pilar Monfort

Centro de Investigacion Principe Felipe

Cooperative Institutions

Instituto de Investigación Sanitaria La Fe

Centro de Investigacion Principe Felipe

Universitat de València

Hospital Universitari i Politècnic La Fe

Instituto de Salud Carlos III

Centre for Biomedical Network Research on Rare Diseases

Centro de Investigación Biomédica en Red

Leitat Technological Center

Consejo Superior de Investigaciones Científicas

Instituto de Investigación de Enfermedades Raras

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Brain regional alterations in the modulation of the glutamate–nitric oxide-cGMP pathway in liver cirrhosis

Neurochemistry International (2006)

Regina Rodrigo Vicente Felipo

10.1016/j.neuint.2005.10.014

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Citations (23)

Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells

PLoS ONE (2013)

María José Aparisi Gema García‐García Elena Aller María Dolores Sequedo Cristina Martínez-Fernández de la Cámara

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital profound deafness, vestibular areflexia and prepubertal retinitis pigmentosa. The first purpose of this study was to determine the pathologic nature of eighteen USH1 putative splicing variants found in our series and their effect in the splicing process by minigene assays. These variants were selected according to bioinformatic analysis. The second aim was to analyze the USH1 transcripts, obtained from nasal epithelial cells samples of our patients, in order to corroborate the observed effect of mutations by minigenes in patient's tissues. The last objective was to evaluate the nasal ciliary beat frequency in patients with USH1 and compare it with control subjects. In silico analysis were performed using four bioinformatic programs: NNSplice, Human Splicing Finder, NetGene2 and Spliceview. Afterward, minigenes based on the pSPL3 vector were used to investigate the implication of selected changes in the mRNA processing. To observe the effect of mutations in the patient's tissues, RNA was extracted from nasal epithelial cells and RT-PCR analyses were performed. Four MYO7A (c.470G>A, c.1342_1343delAG, c.5856G>A and c.3652G>A), three CDH23 (c.2289+1G>A, c.6049G>A and c.8722+1delG) and one PCDH15 (c.3717+2dupTT) variants were observed to affect the splicing process by minigene assays and/or transcripts analysis obtained from nasal cells. Based on our results, minigenes are a good approach to determine the implication of identified variants in the mRNA processing, and the analysis of RNA obtained from nasal epithelial cells is an alternative method to discriminate neutral Usher variants from those with a pathogenic effect on the splicing process. In addition, we could observe that the nasal ciliated epithelium of USH1 patients shows a lower ciliary beat frequency than control subjects.

Minigene

10.1371/journal.pone.0057506

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Citations (23)

Mechanisms of developmental neurotoxicity: Molecular and behavioral correlates

Toxicology Letters (2006)

Blanca Piedrafita Pilar Monfort Omar Cauli Marta Llansola Regina Rodrigo

Astrogliosis

Toxicant

Neurotoxicity

10.1016/j.toxlet.2006.06.053

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Citations (0)

Análisis del DRCR Network sobre coste-efectividad de aflibercept, bevacizumab y ranibizumab para el tratamiento de edema macular diabético y su aplicación en España

Archivos de la Sociedad Española de Oftalmología (2017)

Aída Navarro-Navarro David Salom José Martínez-Toldos Patricia Udaondo Cristian Fernández

Aflibercept

10.1016/j.oftal.2016.12.010

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Decreased DNA hydroxymethylation and increased DNA demethylation are associated with high antioxidant response in systemic lupus erythematosus patients

Medicina Clínica (2021)

J. J. Fragío Gil Elena Grau García Meritxell Fernández Matilla F. Ortíz-Sanjuán Regina Rodrigo

Demethylation

DNA demethylation

10.1016/j.medcli.2020.10.023

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Novel mutations in the USH1C gene in Usher syndrome patients.

PubMed (2010)

María José Aparisi Gema García‐García Teresa Jaijo Regina Rodrigo Claudio Graziano

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia. To date, five USH1 genes have been identified. One of these genes is Usher syndrome 1C (USH1C), which encodes a protein, harmonin, containing PDZ domains. The aim of the present work was the mutation screening of the USH1C gene in a cohort of 33 Usher syndrome patients, to identify the genetic cause of the disease and to determine the relative involvement of this gene in USH1 pathogenesis in the Spanish population.Thirty-three patients were screened for mutations in the USH1C gene by direct sequencing. Some had already been screened for mutations in the other known USH1 genes (myosin VIIA [MYO7A], cadherin-related 23 [CDH23], protocadherin-related 15 [PCDH15], and Usher syndrome 1G [USH1G]), but no mutation was found.Two novel mutations were found in the USH1C gene: a non-sense mutation (p.C224X) and a frame-shift mutation (p.D124TfsX7). These mutations were found in a homozygous state in two unrelated USH1 patients.In the present study, we detected two novel pathogenic mutations in the USH1C gene. Our results suggest that mutations in USH1C are responsible for 1.5% of USH1 disease in patients of Spanish origin (considering the total cohort of 65 Spanish USH1 patients since 2005), indicating that USH1C is a rare form of USH in this population.

Usher syndrome

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Do Intestinal Unicellular Parasites Have a Role in the Inflammatory and Redox Status among the Severely Obese?

Antioxidants (2022)

Jana Caudet María Trelis Susana Cifre Gabriela Tapia José M. Soriano

The diagnosis of obesity comprises subjects with totally different phenotypes and metabolic profiles. Systemic inflammation and oxidative stress derived from the white adipose tissue are suggested as the link between this disease and the development of insulin resistance and metabolic comorbidities. The presence of unicellular eukaryotic parasites colonizing the human gut ecosystem is a common circumstance, and yet their influence on the inflammatory and redox status of the obese host has not been assessed. Herein, a set of inflammatory and redox biomarkers were assessed together with a parasitological analysis of 97 severely obese subjects. Information was also collected on insulin resistance and on the antioxidant composition of the diet. The global prevalence of intestinal unicellular parasites was 49.5%, with

Malondialdehyde

10.3390/antiox11112090

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THU0229 Dna hypomethylation and decreased hydroxymethylation is associated with decreased antioxidant response in systemic lupus erythematous patients

Annals of the Rheumatic Diseases (2017)

E Grau Garcia CM Feced Olmos M Fernandez Matilla E Sánchez Labrador F. Ortíz-Sanjuán

Background

Systemic lupus erythematous (SLE) shows increased DNA demethylation. An intermediate step to DNA demethylation is the DNA hydroxymethylation, where 5-mC is oxidized into 5-hmC. Hydroxymethylation is not completely understood and it may be related to oxidative stress in SLE patient.

Objectives

To analyze the association between the hydroxymethylation and demethylation, with the antioxidant response and SLE pathophysiology.

Methods

We analyzed in 142 SLE patients and 34 healthy controls the serum concentration of glutathione (GSH) and glutathione disulphide (GSSG) by UPLC-MS/MS, superoxide dismutase (SOD) and total antioxidant capacity (TAC) by colorimetric methods. 5-mC and 5-hmC levels were measured by colorimetric methods. Complete blood-test was made and clinical data by personal interview was collected. Biostatistical analysis with R (3.3.2.) was performed.

Results

There is a correlation between the methylation and hydroxymethylation rate (P<0.001), and both were lower in patients than in controls (P=0.024; P<0.001). GSH and GSSG values were lower in patients (P=0.033 y P=0.003), but GSH/GSSG ratio was not statistically different in both groups. SOD levels were higher in patients (P=0.001), but TAC did not show significant differences. Higher demethylation is associated to lower TAC values in patients and healthy controls (P=0.005; P=0.01). In patients, decreased SOD values are associated with higher demethylation and lower hydroxymethylation rates (P<0.001; P=0.007). SOD and TAC levels are increased in SLE patients with higher demethylation and lower hydroxymethylation (P=0.001; P<0.001). We did not observe any association between 5-mC or 5-hmC levels and GSH, GSSG or GSH/GSSG ratio. Higher demethylation is associated to vascular symptoms (defined by RELESSER study) and lupus anticoagulant (AL) positivity (P=0.041; P=0.015), and lower hydroxymethylation to mucocutaneous damage (defined by RELESSER study) and AL positivity (P=0.015; P=0.009). Lower levels of GSH and GSSG were associated to increased accumulated damage assessed by SLICC (P=0.01; P=0.005), and lower SOD values with longer disease duration (P=0.001).

Conclusions

We observed higher demethylation and lower hydroxymethylation in SLE patients than in controls, related to increased SOD activity. Moreover higher demethylation leads to lower TAC levels. These epigenetic disorders are related to antioxidant response disruptions in SLE patients, probably because of the chronic inflammatory condition. Our results suggest that epigenetic processes are involved in SLE physiopathology.

Acknowledgements

Financial support by GVA (GV15/83) is acknowledged.

Disclosure of Interest

None declared

Demethylation

DNA demethylation

10.1136/annrheumdis-2017-eular.2905

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Glutamate‐induced activation of nitric oxide synthase is impaired in cerebral cortexin vivoin rats with chronic liver failure

Journal of Neurochemistry (2007)

Regina Rodrigo Slaven Erceg Jesús Rodríguez‐Díaz Javier Sáez‐Valero Blanca Piedrafita

It has been proposed that impairment of the glutamate-nitric oxide-cyclic guanosine monophosphate (cGMP) pathway in brain contributes to cognitive impairment in hepatic encephalopathy. The aims of this work were to assess whether the function of this pathway and of nitric oxide synthase (NOS) are altered in cerebral cortex in vivo in rats with chronic liver failure due to portacaval shunt (PCS) and whether these alterations are due to hyperammonemia. The glutamate-nitric oxide-cGMP pathway function and NOS activation by NMDA was analysed by in vivo microdialysis in cerebral cortex of PCS and control rats and in rats with hyperammonemia without liver failure. Similar studies were done in cortical slices from these rats and in cultured cortical neurons exposed to ammonia. Basal NOS activity, nitrites and cGMP are increased in cortex of rats with hyperammonemia or liver failure. These increases seem due to increased inducible nitric oxide synthase expression. NOS activation by NMDA is impaired in cerebral cortex in both animal models and in neurons exposed to ammonia. Chronic liver failure increases basal NOS activity, nitric oxide and cGMP but reduces activation of NOS induced by NMDA receptors activation. Hyperammonemia is responsible for both effects which will lead, independently, to alterations contributing to neurological alterations in hepatic encephalopathy.

Hyperammonemia

Hepatic Encephalopathy

Cyclic guanosine monophosphate

10.1111/j.1471-4159.2006.04446.x

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Citations (38)

Animal Models in the Study of Episodic Hepatic Encephalopathy in Cirrhosis

Metabolic Brain Disease (2005)

Rodrigo Jover Enrique de‐Madaria Vicente Felipo Regina Rodrigo Asunción Candela

Portacaval anastomosis

Hyperammonemia

Hepatic Encephalopathy