María Moreno‐Igoa

Complejo Hospitalario de Navarra

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Ana Cristina Calvo

Universidad de Zaragoza

Rosario Osta

Universidad de Zaragoza

P. Zaragoza

Universidad de Zaragoza

Marı́a Jesús Muñoz

Universidad de Zaragoza

Raquel Manzano

Universidad de Zaragoza

Sara Oliván

Universidad de Zaragoza

María A. Ramos‐Arroyo

Navarrabiomed

Janne M. Toivonen

Universidad de Zaragoza

Blanca Hernández‐Charro

Complejo Hospitalario de Navarra

Alfredo Santana

Universidad de Las Palmas de Gran Canaria

Cooperative Institutions

Instituto de Salud Carlos III

Centre for Biomedical Network Research on Rare Diseases

Universidad Autónoma de Madrid

Centro de Investigación Biomédica en Red

Hospital Universitario Fundación Jiménez Díaz

Instituto de Investigación de Enfermedades Raras

Biomedical Research Networking Center on Neurodegenerative Diseases

Universidad de Zaragoza

Universidad de Navarra

Universitat Autònoma de Barcelona

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Single strand DNA detection by means of lossy mode resonance-based optical fiber devices

IEEE Sensors (2016)

Carlos R. Zamarreño Pablo Zubiate Pedro Sánchez Ignacio R. Matı́as Francisco J. Arregui

DNA sequence detection has a broad range of applications in different fields such as genetics, pathology, criminology, pharmacogenetics, public health, food safety, agriculture, defense and environmental monitoring. However, common DNA detection techniques present several drawbacks such as bulky size, restricted to laboratory environments, high equipment cost and time consuming experiments. Here, we present an alternative DNA detection technique by means of the utilization of label-free lossy mode resonance (LMR) based optical fiber refractometers and compare two different DNA immobilization techniques.

Lossy compression

Refractometer

10.1109/icsens.2016.7808621

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Citations (1)

Altered Expression of Myogenic Regulatory Factors in the Mouse Model of Amyotrophic Lateral Sclerosis

Neurodegenerative Diseases (2011)

Raquel Manzano Janne M. Toivonen Sara Oliván Ana Cristina Calvo María Moreno‐Igoa

Background: In the superoxide dismutase 1 (SOD1)-G93A mouse model of amyotrophic lateral sclerosis (ALS), skeletal muscle is a key target of mutant SOD1 toxicity. However, the expression of factors that control the regenerative potential of the muscle is unknown in this model. Objective: To characterize the expression of satellite cell marker Pax7 and myogenic regulatory factors (MRF) in skeletal muscle of SOD1-G93A mice at different stages of the disease. Methods: The expressions of Pax7, Myod1, Myf5 and myogenin (Myog) were determined by quantitative real-time PCR and by Western blotting from the grouped gastrocnemius, quadriceps and soleus muscles of SOD1-G93A mice at presymptomatic, symptomatic and terminal stages of the disease, and from surgically denervated wild-type gastrocnemius muscles. Results:Pax7 mRNA and MYF5 protein were upregulated in presymptomatic mice, coinciding with increased muscle damage marker Rrad and chemokine Ccl5. All MRF transcripts and most proteins (excluding MYOG) were increased, starting from 3 months of age, simultaneously with increased expression of denervation marker Chrna1. However, in the terminal stage, no protein increase was evident for Pax7 or any of the MRF despite the increased mRNA levels. The transcripts for chemokine Ccl2 and chemokine receptor Cxcr4 were increased starting from the onset of symptoms. Conclusions: The characterization of Pax7 and MRF in SOD1-G93A mice reveals a progressive induction of the myogenic program at the RNA level, but a blunted protein level response at late stages of the disease. Altered posttranscriptional and posttranslational mechanisms likely to operate, as well as the potential role of chemokine signaling in mutant SOD1 muscle, are discussed.

MYF5

Myogenic regulatory factors

10.1159/000324159

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Citations (42)

Consequences of unilateral nigrostriatal denervation on the thalamostriatal pathway in rats

European Journal of Neuroscience (2006)

Marta Aymerich Pedro Barroso‐Chinea Mónica Pérez‐Manso Ana Muñoz María Moreno‐Igoa

Abstract The position of the caudal intralaminar nuclei within basal ganglia circuitry has largely been neglected in most studies dealing with basal ganglia function. During the past few years, there has been a growing body of evidence suggesting that the thalamic parafascicular nucleus in rodents (PF) exerts a multifaceted modulation of basal ganglia nuclei, at different levels. Our aim was to study the activity of the thalamostriatal pathway in rats with unilateral dopaminergic depletion. The experimental approach comprised first unilateral delivery of 6‐OHDA in the medial forebrain bundle. Thirty days post‐lesioning, animals showing a clear asymmetry were then subjected to bilateral injection of Fluoro‐Gold (FG) within the striatum. Subsequently, expression of the mRNA encoding the vesicular glutamate transporter 2 (vGLUT2) was detected within thalamostriatal‐projecting neurons (FG‐labeled) by in situ hybridization and the results were confirmed by laser‐guided capture microdissection microscopy followed by real‐time PCR. The data showed that there was a marked neuronal loss restricted to PF neurons projecting to the dopamine‐depleted striatum. Moreover, PF neurons innervating the dopamine‐depleted striatum were intensely hyperactive. These neurons showed a marked increase on the expression of vGLUT2 mRNA as well as for the mRNA encoding the subunit I of cytochrome oxidase as compared with those neurons projecting to the striatum with normal dopamine content. Thus, the selective neurodegeneration of PF neurons innervating the striatum together with the increased activity of the thalamostriatal pathway coexist after nigrostriatal denervation.

Medial forebrain bundle

Nigrostriatal pathway

10.1111/j.1460-9568.2006.04741.x

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Citations (78)

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Scientific Reports (2021)

Irene Perea‐Romero Gema Gordo Ionut-Florin Iancu Marta Del Pozo‐Valero Berta Almoguera

Abstract Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2 , ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO , USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.

ABCA4

Medical genetics

Compound heterozygosity

10.1038/s41598-021-81093-y

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Citations (103)

Determination of protein and RNA expression levels of common housekeeping genes in a mouse model of neurodegeneration

PROTEOMICS (2008)

Ana Cristina Calvo María Moreno‐Igoa Raquel Manzano Laura Ordovás G. Yagüe

The choice of housekeeping proteins or genes for internal standards should be made carefully, taking into account the cell and tissue type, the experimental conditions, and the healthy/disease state(s) under consideration. Furthermore, as the correlation between transcriptional and translational levels of commonly used housekeeping genes is often discussed, this study shed light on the transcriptional levels of beta-actin and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and the translational levels of beta-actin, GAPDH, and beta-tubulin in an amyotrophic lateral sclerosis mouse model.

Housekeeping gene

Glyceraldehyde 3-phosphate dehydrogenase

Reference Genes

Housekeeping

10.1002/pmic.200701091

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Citations (26)