Paedriatic neuroscience

Paedriatic neuroscience

  • PKU and other amino acid genetic diseases

    PKU and other amino acid genetic diseases

    The fact that our hospital institution is a reference centre for phenylketonuria in Catalonia has allowed us to study in depth the pathophysiological mechanisms involved in this disease in our patients and to test new treatments aimed to improve their metabolic control and neurologic prognosis. Our studies have led to the conclusion that some neuropsychological and neurological alterations are associated, on the one hand, with metabolic control, and on the other with antioxidant deficiencies. We have begun new treatments (with tetrahydrobiopterin) on our patients with phenylketonuria that have provided a better metabolic control and the possibility of freeing them from the special diet they were following. The monitoring of this treatment will be an important subject of study for the next three years. With respect to other disorders of the intermediate metabolism, mention should be made of our work on disorders of the metabolism of homocysteine and other amino acids, primarily addressed to characterising new disorders and new phenotypic presentations.

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  • Applied research on neuromuscular disorders

    Applied research on neuromuscular disorders

    Our research lines are currently focused on two main areas:

    1. Muscular dystrophies, including Duchenne muscular dystrophy (DMD) and congenital muscular dystrophies (CMD), with a special focus on the role of the extracellular matrix and collagen VI.
    2. Mitochondrial diseases incluing mithocondrial DNA depletion syndromes affecting muscle.

    In both cases, by means of "omics" techniques, bioinformatics and cell models, the gene expression footprint of patients' muscle has been determined in comparison to healthy muscle. This has allowed the identification of new pathophysiological mechanisms, diagnostic markers and therapeutic targets for these disorders.

    In collaboration with the University of Barcelona and CIBERDEM, we have described a new function for collagen VI in the regulation of glucose metabolism in muscle cells and adipocytes. This finding forms the basis of a pending patent.

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  • Neurometabolic disorders with expression in the Central Nervous System

    Neurometabolic disorders with expression in the Central Nervous System

    We have been studying these metabolic disorders since 2003 while collaborating with various centres in Spain, Portugal, Greece, Argentina, Turkey and India, among other countries. We basically study dopamine and serotonin disorders and, since quite recently, GABA disorders. From the clinical standpoint, patients show severe encephalopathies that are detected by the specific study of this neurotransmitter in cerebrospinal fluid (CSF). Our main goal is diagnosis with a very strong focus on therapy since many of these disorders have a treatment that can improve or normalise the patient's clinical condition. Likewise, our translational research presents some interesting aspects, including the incorporation of studies on CSF proteomics and on cell lines with deficiencies involving tyrosine hydroxylase (a rate-limiting enzyme in dopamine synthesis), which are analysed by different cell biology and electrophysiology techniques. We have been able to include these new procedures in our research thanks to the establishment in recent years of our laboratory for the study of neuron synapses in paediatric neurologic disorders, primarily conceived for research on synaptic metabolism.

    Consequently, we are working most actively in this research line on the following aspects:

    • Study of neurotransmitters (dopamine, serotonin and GABA) and pterins: primary and secondary changes.
    • Analysis of synaptic proteins and neuronal growth factors.
    • Cell model of tyrosine hydroxylase disorder.
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  • Neurogenetics and Molecular Medicine

    Neurogenetics and Molecular Medicine

    The group of "Neurogenetics and Molecular Medicine" (NeuroGene) investigates the molecular basis of development diseases and how the central and peripheral nervous systems work. The experimental approach includes genetic and genomic analyses, the cell biology and the study of the pathophysiology using animal models.

    The "NeuroGene" scientific work has the vocation of clinical translation within the Pediatric Institute for Rare Diseases (IPER) and transfers the knowledge generated to the National Health System.

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  • Mitochondrial energy metabolism

    Mitochondrial energy metabolism

    In this research line we have analysed the clinical and biochemical aspects of childhood mitochondrial encephalomyopathies due to the change of oxidative phosphorylation, and the effect of treatment with various therapies. This research line has been possible thanks to stable collaborations with reference centres within the context of the CIBERER network and the development of research projects financed and coordinated by FIS. We have developed a research line for the diagnosis of primary and secondary deficiencies of coenzyme Q. This research line has been possible thanks to the grant of three consecutive FIS projects for the investigation of this subject.

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  • SMTV


    The researchers of the Neuronal Development and Metabolic Disorders Group belong to the Unit for Assistance on Movement Disorders Caused by Rare Diseases. This unit, which is formed by specialists of Hospital Sant Joan de Déu and Hospital Clínic de Barcelona, seeks to be designated a reference unit of the Spanish National Health System. In the last 5 years, the group has devoted itself to a research line on vitamin-sensitive movement disorders. These are defects in genes responsible for the transport, synthesis and processing of vitamins. The disorders of this type affect the developing central nervous system and may produce processes of acute and/or progressive encephalopathy, mitochondrial energetic deficit and brain myelination disorders. Their identification is a priority since the early administration of large doses of vitamins may bring about a spectacular improvement in patients. This research line has been possible thanks to the performance of the following research projects financed by FIS:

    • Study of defects in the transport and metabolism of thiamine associated with recurrent encephalopathies in childhood.
    • Cerebral folate deficiency.
    • Relation to neurotransmitters and follow-up of treatment with folinic acid.
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