A5003019119- Mitochondrial Function and Pathology
- Coenzyme Q10 studies and effects
- Advanced battery technologies research
- Metabolism and Genetic Disorders
- Biochemical Acid Research Studies
- ATP Synthase and ATPases Research
- Glycosylation and Glycoproteins Research
- GDF15 and Related Biomarkers
- Genomics and Rare Diseases
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Glycogen Storage Diseases and Myoclonus
- Genetic Neurodegenerative Diseases
- Infant Nutrition and Health
- Neonatal Respiratory Health Research
- Nutrition and Health in Aging
- Cellular transport and secretion
- Endoplasmic Reticulum Stress and Disease
- Child Nutrition and Feeding Issues
- Biochemical and Molecular Research
- Muscle metabolism and nutrition
- Neurological diseases and metabolism
- Fetal and Pediatric Neurological Disorders
- Myasthenia Gravis and Thymoma
Hospital Sant Joan de Déu Barcelona
2013-2022
Institut de Recerca Sant Joan de Déu
2017-2022
Centre for Biomedical Network Research on Rare Diseases
2011-2021
Red de Investigación en Actividades Preventivas y Promoción de la Salud
2017-2021
Sant Joan de Déu Research Foundation
2017-2020
Instituto de Salud Carlos III
2010-2020
Instituto de Investigación de Enfermedades Raras
2008-2017
Garrahan Hospital
2017
Universitat de Barcelona
2015-2016
Institute for Research in Biomedicine
2015-2016
Background We previously described increased levels of growth and differentiation factor 15 (GDF-15) in skeletal muscle serum patients with mitochondrial diseases. Here we evaluated GDF-15 as a biomarker for diseases affecting children compared it to fibroblast-growth 21 (FGF-21). To investigate the mechanism induction these pathologies measured its expression secretion response dysfunction. Methods analysed 59 samples from 48 disease, 19 other neuromuscular 33 aged-matched healthy children....
Abstract Background Mutations in the gene encoding thymidine kinase 2 (TK2) result myopathic form of mitochondrial DNA depletion syndrome which is a encephalomyopathy presenting children. In order to unveil some mechanisms involved this pathology and identify potential biomarkers therapeutic targets we have investigated expression profile human skeletal muscle deficient for TK2 using cDNA microarrays. Results We analysed whole transcriptome from patients with mutations compared it normal...
Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain-of-function mutations the CaV2.1 channel, for which acetazolamide therapy is suggested. Impairment N-glycosylation promotes effects may participate PMM2-CDG. AZATAX was designed to establish whether safe improves PMM2-CDG.A clinical trial included PMM2-CDG patients, a 6-month first-phase single group,...
Abstract Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with distinct clinical and biochemical phenotype of recurrent crises, hypoglycemia, lactic acidosis, rhabdomyolysis, arrhythmias, encephalopathy cognitive decline. We report nine subjects from seven independent families, we studied muscle histology, respiratory chain enzyme activities in skeletal proteomic signature fibroblasts. All carried autosomal recessive...
We assessed the clinical outcome after coenzyme Q(10) (CoQ(10)) therapy in 14 patients presenting ataxia classified into two groups according to CoQ(10) values muscle (deficient or not). performed an open-label prospective study: were evaluated clinically (international cooperative rating scale [ICARS] scale, MRI, and videotape registration) at baseline every 6 months during a period of 2 years treatment (30 mg/kg/day). Patients with deficiency showed statistically significant reduction...
Abstract Laboratory data interpretation for the assessment of complex biological systems remains a great challenge, as occurs in mitochondrial function research studies. The classical biochemical patients versus reference values may be insufficient, and fact current classifications are still done on basis probability criteria. We have developed applied mathematic agglomerative algorithm to search correlations among different variables respiratory chain order identify populations displaying...
Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion folinic acid therapy might be useful in treatment of KSS patients. Our aim was to assess clinical neuroimaging outcomes patients receiving therapy. Patients: We recruited eight diagnoses KSS. Four cases were treated at 12 de Octubre Hospital, two Sant Joan Déu Hospital. Two refused participate protocol. Methods: Clinical,...
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations CACNA1A (encoding CaV2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical variables detect risk factors for SLE a series 43 PMM2-CDG patients. explore hypothesis abnormal function due aberrant N-glycosylation as potential novel pathomechanism ataxia using whole-cell...
Since host genetics is one of the primary factors contributing to COVID-19 susceptibility and its clinical progression, several studies have focused on analysing implications genetic polymorphisms associated with COVID-19. These particularly emphasise common variants in genes that are involved viral mechanism entry host’s response infection. In this study, we explored participation 24 single nucleotide located ACE , ADAM17 FURIN IFITM3 TMPRSS2 VDR SARS-CoV-2 infection susceptibility. Three...
Coenzyme Q10 (CoQ10) deficiency appears to have a particularly heterogeneous clinical presentation. However, there appear be 5 recognisable phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. although useful, symptoms alone are insufficient for the definitive diagnosis of CoQ10 which relies upon biochemical assessment tissue status. In this article, we review methods used in human indicate most appropriate tissues evaluation.
Abstract Identifying diseases displaying chronic low plasma Coenzyme Q 10 (CoQ) values may be important to prevent possible cardiovascular dysfunction. The aim of this study was retrospectively evaluate CoQ concentrations in a large cohort pediatric and young adult patients. We evaluated 597 individuals (age range 1 month 43 years, average 11 years), studied during the period 2005–2016. Patients were classified into 6 different groups: control group healthy participants, phenylketonuric...
Abstract GDF-15 is a biomarker for mitochondrial diseases. We investigated the application of as disease severity and response to deoxynucleoside treatment in patients with thymidine kinase 2 (TK2) deficiency compared it FGF-21. FGF-21 were measured serum from 24 TK2 treated 1–49 months oral deoxynucleosides. Patients grouped according age at biomarkers analyzed baseline various time points after initiation. was elevated on average 30-fold children 6-fold adults before start treatment. There...
Currently, there is a paucity of available treatment strategies for oxidative phosphorylation disorders. Coenzyme Q10 (CoQ10) and related synthetic quinones are the only agents to date that have proven be beneficial in these heterogeneous The therapeutic efficacy CoQ10 not restricted patients with an underlying deficiency thought result from its ability restore electron flow mitochondrial respiratory chain (MRC) as well increase cellular antioxidant capacity. At present, however, no...