Research & Initiatives
Our lab focusses on pathogenic and protective mechanisms in neurodegeneration
Our lab studies pathogenic and protective mechanisms in neurodegeneración, focusing on glial cells such as astrocytes and microglia in cellular and animal models of Huntington’s disease (HD). Our ultimate goal is to find new therapeutic targets that may become treatments for HD.
We investigate mechanisms of protection by glial cells in HD, particularly we are evaluating protective mechanisms of the brain-derived neurotrophic (BDNF) in the mitochondrial function of astrocytes in HD. We also demonstrated the neuroprotective effect of the conditioned media of cultured astrocytes treated with BDNF on cellular models of HD. This protection can be mediated by extracellular vesicles released by glia into the extracellular media. Thus, another lab project will characterize extracellular vesicles secreted by glia in HD mice, to determine their participation in the protective effect of glial cells on neurodegeneration and to evaluate the therapeutic potential of extracellular vesicles in HD.
Pathogenic mechanisms of HD are not elucidated yet. Our results show that the protein HMGB1, a nuclear protein involved in inflammation and DNA repair, increases its expression selectively in the striatum of HD mice and thus, it may be involved in inflammation in HD, which in turn may contribute to mitochondrial, motor, and cognitive dysfunction in HD mice.
Huntington's disease
Huntington's disease (HD), also known as Huntington’s chorea, is an inherited brain disease that affects the nervous system. Classic signs of HD include emotional, cognitive, and motor disturbances.HD is characterized by involuntary movements (chorea); loss of control of bodily functions; and dementia, including progressive deterioration of memory, speed of thought, judgement, lack of awareness of problems, and planning.
HD is an autosomal dominant disease caused by CAG expansion in the huntingtin gene, which leads to a mutant huntingtin protein. HD typically occurs in the fourth or fifth decade of life. It is likely that the earlier the onset, the faster the disease progression.
TREATMENTS
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There is currently no cure for HD. There are several medications to help control symptoms; however, there is no treatment to stop or delay the course of the disease.
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In addition to a neurologist, HD treatment requires an integrated multidisciplinary approach.
GENETIC TESTING
Genetic testing for HD can be performed to confirm the diagnosis when the disease is suspected based on symptom examination and when a person is at risk of inheriting the disease because they are a family member of HD patients.
PROGNOSIS
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HD is a progressive disease that worsens over time (ranging from 10 to 30 years of age).
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Patients experience symptoms that impair functional capabilities.
HD
web sites
1 APAE
Argentinean Huntington’s Disease patients America
Asociación para el Apoyo a los enfermos de Huntington - APAEH
instagram: apaeh.huntingtonargentina