Neuroscience and Disease

Mitochondria and Neurodegenerative Disorders

Mitochondrial Function and Dynamics

Redox Changes

Glutamatergic Synapses and Calcium Homeostasis

Transcriptional Deregulation

Neuronal Dysfunction and Degeneration


Research lines

Transcription deregulation and mitochondrial dysfunction in Alzheimer's disease

Altered mitochondrial function and Src signaling in Huntington's disease

Role of SAPAP3 in Huntington's disease

Exosomal release content in Huntington's disease

Mitochondrial deregulation in alpha-synuclein model of Parkinson's disease

Overview

Our group aims to understand fundamental cell and molecular mechanisms in early/initial stages of brain neurodegenerative disorders, namely in Huntington’s disease (HD), Parkinson’s disease (PD) and Alzheimer’s disease (AD). These are chronic, debilitating, and age-related brain pathologies, characterized by aggregation of particular proteins, selective neurodegeneration and progressive cognitive decline, and for which there is still no cure. Although there are several mechanisms by which neurons degenerate, the initial steps of neuronal dysfunction, occurring before the main disease-related symptoms, are not completely understood. In this perspective, by using molecular, cellular, ex-vivo and in vivo approaches, we aim to investigate early stages of disease-related modifications affecting mitochondrial function, biogenesis and dynamics and related signaling processes, including redox deregulation and glutamate postsynaptic dysfunction, as well as the possible transfer of proteins, mRNA or miRNAs (e.g. through exosomes) between cells. We use different models of neurodegenerative disorders and peripheral human cells derived from patients (e.g. human PBMCs, skin fibroblasts-derived iPSC) and non-affected individuals; the latter is supported by a close interaction with neurologists at the local hospital, CHUC. Identification of initial brain pathological processes is expected to uncover relevant molecular targets for therapeutic interventions. Therefore, the group aligns basic interest in early disease stages with potential translational research, as well as investigation on neuroprotective therapies, namely modifiers of mitochondrial function, glutamatergic synapses and transcriptional regulation using pharmacological compounds (e.g. HDAC inhibitors, resveratrol, pridopidine), modulation of protein expression (e.g. SIRT3, SAPAP3) and/or gene correction strategies (e.g. HTT gene exon 1 deletion).

R&D Projects

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