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Description

The Molecular Genetics of Development and Biomedical Models group uses the fly Drosophila melanogaster as an experimental organism. In recent years, Drosophila has become a very useful tool in biomedical research. The development of very powerful genetic techniques in this organism, and the fact that it shares part of its biology with that of humans, and that it contains homologues of most of the genes involved in human diseases, justify this success.

In this context, our group is using several approaches to study human genetic diseases in Drosophila in order to dissect their pathogenesis pathways and identify biomarkers that allow their diagnosis and/or study their progression, and to discover molecules with therapeutic potential to alleviate and/or delay their symptoms. Specifically, we are interested in the study of Parkinson's disease (PD), which is the second most common neurodegenerative disease. Although most cases of PD are sporadic, familial forms represent 5-10% and appear as a consequence of mutations in certain genes such as DJ-1, the gene responsible for a recessive and juvenile form of familial PD. DJ-1 is a multifunctional protein involved in processes such as the response to oxidative stress (OS), mitochondrial homeostasis and metabolism, the alteration of which is key to the onset of the disease.

The group has developed a model of PD in Drosophila based on the lack of function of the DJ-1beta gene (orthologue of the human DJ-1 gene), since the DJ-1? protein has biochemical properties similar to the human DJ-1 protein. The model flies show a high level of oxidative damage and reproduce some aspects of PD, such as high sensitivity to EO and motor defects.

We are currently using several experimental strategies in PD model flies in order to understand the pathophysiological alterations associated with the disease and to identify biomarkers that will allow us to establish new diagnostic and therapeutic tools. In addition, and given that PD is an incurable disorder for which there are only symptomatic treatments, we are looking for compounds capable of suppressing motor defects and reducing OE levels in model flies. The candidate compounds are then validated in human cells and in vertebrate models, and could therefore become potential therapeutic molecules for PD. Since the DJ-1 protein is inactivated in many patients with sporadic PD, the results obtained in model flies could be relevant for these more frequent cases of PD.

On the other hand, the group is interested in the study of basic developmental processes in Drosophila relevant to human health, such as embryonic dorsal closure (DC) and wound healing (WH) in this organism. DC is a morphogenetic process involving migration and fusion of epithelial layers and is used as an in vivo model of vertebrate CH, as the cellular machinery and signalling pathways involved in both are similar. Understanding the molecular basis of CH and regeneration is a major challenge in biology and medicine, as it will accelerate the repair of damaged tissues, the reconstruction of tissues/organs and the restoration of homeostasis.

Goals CT
  • Use of Drosophila as a model for the study of human pathologies of genetic origin.
  • Study of basic developmental processes in Drosophila relevant to human health.
Research lines
Management
  • PARICIO ORTIZ, NURIA
  • PDI-Catedratic/a d'Universitat
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Scientific production by UV researcher
Associated structure
Institute of Biotechnology and Biomedicine (BIOTECMED)
Contact people
  • PARICIO ORTIZ, NURIA
  • PDI-Catedratic/a d'Universitat
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