A5103257959- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Cardiomyopathy and Myosin Studies
- ATP Synthase and ATPases Research
- Cardiovascular Effects of Exercise
- Amyloidosis: Diagnosis, Treatment, Outcomes
- RNA modifications and cancer
- Biochemical and Molecular Research
- Viral Infections and Immunology Research
- Glycogen Storage Diseases and Myoclonus
- Peptidase Inhibition and Analysis
- Neurological and metabolic disorders
- Metalloenzymes and iron-sulfur proteins
- Renal Transplantation Outcomes and Treatments
- Genomics and Rare Diseases
- Cardiac pacing and defibrillation studies
- Trypanosoma species research and implications
- Porphyrin Metabolism and Disorders
- RNA and protein synthesis mechanisms
- Renin-Angiotensin System Studies
- Eosinophilic Disorders and Syndromes
- Nuclear Structure and Function
- Muscle Physiology and Disorders
- RNA Research and Splicing
- Parathyroid Disorders and Treatments
Hospital Universitario Puerta de Hierro Majadahonda
2010-2023
Universidad Autónoma de Madrid
2004-2015
Instituto de Investigaciones Biomédicas Sols-Morreale
2004-2015
Centro de Investigación Biomédica en Red
2010-2015
Centre for Biomedical Network Research on Rare Diseases
2008-2015
Universitat Autònoma de Barcelona
2015
Universitat de Barcelona
2015
Vall d'Hebron Institut de Recerca
2015
Hospital de Sant Pau
2015
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2015
Heart failure with preserved ejection fraction (HFpEF) is a heterogeneous clinical syndrome multiple underlying causes. Wild-type transthyretin (TTR) amyloidosis (ATTRwt) an underdiagnosed cause of HFpEF that might benefit from new specific treatments. ATTRwt can be diagnosed non-invasively by 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) scintigraphy. We sought to determine the prevalence among elderly patients admitted due HFpEF. prospectively screened all consecutive ≥60...
Mutations in OPA1, a dynamin-related GTPase involved mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). We here report on eight patients from six independent families showing that mutations the OPA1 gene can also be responsible for syndromic form DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external...
<h3>Backgroud</h3> Idiopathic dilated cardiomyopathy (DCM) is the most frequent indication for orthotopic heart transplantation. It has been suggested that mutations in genes encoding desmosomal proteins, more typically associated with arrhythmogenic right ventricular cardiomyopathy, are a cause of DCM. <h3>Objectives</h3> To determine frequency protein gene transplant recipients and their families to examine histopathological characteristics explanted organs from mutation carriers....
<h3>Background</h3> Both dominant and recessive mutations were reported in the gene encoding mitochondrial (mt) DNA polymerase γ (<i>POLG</i>) patients with progressive external ophthalmoplegia (PEO). Phenotypes other than PEO recently documented the<i>POLG</i>gene. <h3>Objective</h3> To screen disease multiple mtDNA deletions muscle for coding regions of the<i>POLG</i>,<i>PEO1</i>, and<i>SLC25A4</i>genes. <h3>Design</h3> identify underlying molecular defect a group comparing their genetic...
Sixteen unrelated Southern European patients with the mitochondrial depletion syndrome (MDS) were analyzed for mutations in TK2 and DGUOK genes. Three novel identified (R183G, R254X, 142insG). When we additional genes involved dNTPs pool, such as SLC25A19 (DNC) NT5M (d-NT2), did not detect mutations. The current study suggest that scanning TK2, DGUOK, SLC25A19, is likely to help about 10% of MDS families terms genetic counseling. Also, our findings indicate genotype-phenotype correlations...
We report the first nonsense mutation (G7896A) in mtDNA gene for subunit II of cytochrome c oxidase (COX) a patient with early-onset multisystem disease and COX deficiency muscle. The was heteroplasmic muscle, blood, fibroblasts from abundantly present COX-deficient fibers, but less abundant COX-positive fibers; it not found blood samples patient's asymptomatic maternal relatives. Immunoblot analysis showed reduced concentration both I polypeptides, suggesting impaired assembly holoenzyme.
Thymidine kinase 2 (TK2) is a mitochondrial enzyme participating in the salvage of deoxyribonucleotides needed for DNA (mtDNA) replication. TK2 catalyzes first and rate-limiting step deoxypyrimidine pathway. Mutations were typically associated with severe myopathic form mtDNA depletion syndrome (MDS) characterized by dramatic decrease copy number muscle that manifests during infancy leads to early death most patients.1 Recently, several patients have been diagnosed late-onset or...
Objective: To define potential pathogenic mitochondrial DNA (mtDNA) point mutations in a patient with myoclonus epilepsy ragged-red fibers (MERRF) syndrome.
<i>Background</i>: Cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by recurrent ischemic strokes dementia caused mutations in the <i>Notch3</i> gene. In <i>Drosophila melanogaster,</i> Notch signaling has a pleiotropic effect, affecting most tissues of organism during development. <i>Objective</i>: To characterize potential mitochondrial dysfunction associated <i>Methods</i>: Biochemical, histochemical, molecular, genetic analyses...
The mitochondrial DNA m.13513G>A mutation in the ND5 subunit gene is a frequent cause of Leigh syndrome. Patients harboring this typically present with ptosis and cardiac conduction abnormalities, particularly Wolff-Parkinson-White syndrome, have late clinical onset, which contrasts typical infantile form. authors describe patient presenting intrauterine growth retardation visual impairment at 3 months age, followed by spasms, severe gastrointestinal dysmotility, neurological regression....
AimsMitochondrial haplogroups are known to influence individual predisposition a wide spectrum of metabolic and degenerative diseases, including ischaemic cardiovascular diseases. We have examined the mitochondrial DNA (mtDNA) background on development human end-stage heart failure (HF) in patients undergoing transplantation. The mtDNA incidence transplant-related complications, mainly cardiac allograft vasculopathy (CAV), post-transplant survival was also studied.
Confirming the pathogenicity of mitochondrial tRNA point mutations is one classical challenges in field medicine. In addition to genetic and functional studies, evaluation a change using scoring system extremely useful discriminate between disease-causing from neutral polymorphisms. The very robust for confirming pathogenicity, especially that show impaired activity studies. However, giving normal results same approaches are disregarded, this compromises power rule out pathogenicity. We...
Two mutations (G8363A and A8296G) in the mtDNA (mitochondrial DNA) tRNALys gene have been associated with severe mitochondrial diseases a number of reports. Their functional significance, however, remains unknown. We already shown that homoplasmic cybrids harbouring A8296G mutation display normal oxidative phosphorylation, although possibility subtle change respiratory capacity an open issue. now investigated pathogenic mechanism another (G8363A) by repopulating mtDNA-less human osteosarcoma...