News Awarded a UPO study on precision medicine in mitochondrial...

Awarded a UPO study on precision medicine in mitochondrial diseases


The assistance to the team led by José Antonio Sánchez Alcázar has been granted by the Pharmaceutical College of Seville and the Mehuer Foundation


The Mitocure project of the Pablo de Olavide University (UPO), focused on the study of personalized therapies for mitochondrial diseases, has been one of the two awarded works in the ‘VIII Call for Research Aid on Orphan Drugs and Rare Diseases’ , an initiative of the College of Pharmacists of Seville and the Mehuer Foundation.

Thus, according to a statement, the work ‘Precision medicine in mitochondrial diseases’ has received the ‘Help Santiago Grisolía’, endowed with 6,000 euros.

This aid contributes to the development of the research lines of the scientific team led by UPO professor José Antonio Sánchez Alcázar, of the Department of Physiology, Anatomy and Cell Biology, international reference in the search for therapies against rare diseases, those diseases that They have a low frequency in the population.

Mitochondrial diseases cover a broad spectrum of chronic and progressive muscular and neurodegenerative disorders caused by mutations in nuclear (nDNA) or mitochondrial (mtDNA) DNA, most of which do not have effective treatment.

They are, therefore, disorders resulting from the deficiency of one or more proteins located in the mitochondria (energy source of a cell) and involved in metabolism. They cause the greatest damage to the cells of the brain, heart, liver, skeletal muscles, kidneys and the endocrine and respiratory system, since the tissues with greater dependence on mitochondrial metabolism (i.e. those that require a greater energy intake) are the most sensitive to mitochondrial mutations.

In this project, the UPO group and research, which develops its work in the Andalusian Center for Development Biology (mixed center of the CSIC, UPO and Junta de Andalucía), proposes to evaluate the therapeutic effectiveness of the different treatments available in fibroblasts derived from mitochondrial patients and in neuronal cells generated by direct reprogramming.

“To achieve this objective, we will study the effects of these treatments on the pathophysiological alterations present in fibroblasts and neuronal cells derived from patients,” explains José Antonio Sánchez Alcázar.

Thus, thanks to cell models from patients, this research group studies cell proliferation, mitochondrial respiratory chain enzymatic activities, coenzyme Q 10 levels, mitochondrial protein expression levels, membrane potential mitochondrial, and the activation of mitophagy and / or apoptosis.

In this way, Sánchez Alcázar’s team carries out a personalized pharmacological screening, which is based on the hypothesis that different mutations or inter-individual genetic variation can contribute significantly both to disease susceptibility and to the response to pharmacological treatments.

As the UPO researcher explains, “the goal of personalized medicine is to maximize the probability of therapeutic efficacy and minimize the risk of drug toxicity for an individual patient.” In this way, they experience the effects of different drugs and in vitro doses on the tissues of the patients themselves and thus be able to observe the results individually with a lower risk for the patient.

The objectives of the project are, therefore, eminently practical and conform to the main research priorities established by the patient associations since it will generate cellular models of the disease, evaluate the molecular cascades that lead to its development and aims to find new therapies Customized effective in mitochondrial patients.


These grants, convened by the College of Pharmacists of Seville and the Mehuer Foundation, aim to contribute to further development in the field of research on orphan drugs and rare diseases. Since its creation, in 2004, both entities have awarded almost thirty research projects in the field of rare diseases.

In addition to the Mitocure project led by the researcher at the Pablo de Olavide University José Antonio Sánchez Alcázar, in this call the ‘Miguel Gil Help’ has also been granted to the work ‘Activation of AMPK as a therapeutic strategy against Huntington’s disease’, of Rafael Vázquez Manrique, from the La Fe Health Research Institute (La Fe Hospital, Valencia). Each of the grants are endowed with 6,000 euros.

Both researchers will present communication of their work to the X Congress of Orphan Drugs and Rare Diseases, which will take place in the city of Seville in February 2021.


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