Mario Sanhueza

Assistant Professor

Molecular Biotechnology Engineer and Master in Biological Sciences from the University of Chile. He completed his PhD at the University of Edinburgh, United Kingdom, studying new modifiers of neurodegeneration in amyotrophic lateral sclerosis, using the fly as a model. As part of Dr. Felipe Court's group at the Pontifical Catholic University and then at the Universidad Mayor, he developed a postdoctoral internship trying to understand the mechanisms of axonal degeneration and its link with neurodegenerative diseases and aging. Currently, his research focuses on determining the participation of lipid metabolism in the pathomechanism of neurodegenerative diseases. In addition, through genetic screening, and dietary and epigenetic modifications, the group seeks to elucidate the mechanisms of metabolic influence in neurodegeneration and aging. For these questions, Drosophila or the vinegar fly presents important comparative advantages that are exploited in this group, and that allow the use of numerous genetic tools and models of human diseases with greater experimental simplicity.

Mario Sanhueza


Müller, M., Ahumada-Castro, U., Sanhueza, M., Gonzalez, C., Court, F., & Cárdenas, C. (2018) Mitochondria and Calcium Regulation as Basis of Neurodegeneration Associated with Aging. Frontiers Neuroscience, 12, e.470.

Salvadores, N., Sanhueza, M., Manque, P. & Court, F. (2017) Axonal degeneration during aging and its functional role in neurodegenerative disorders. Frontiers Neuroscience, 11, e.451.

Sanhueza, M., Kubasik-Thayil, A., Pennetta, G. (2016) Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction. Journal of Visual Experiments 12 (111). doi: 10.3791/53821.

Sanhueza, M., Chai, A., Simpson, I., Smith, C., McCray, B., Taylor, J.P. & Pennetta, G. (2015) Network analyses reveal novel aspects of ALS pathogenesis. PLoS Genetics, 11(3), e1005107.

Sanhueza, M., Zechini, L., Gillespie, T. & Pennetta, G. (2014) Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles. Biology Open, 3 (1), pp.59-71.

Forrest, S., Chai, A., Sanhueza, M., Marescotti, M., Parry, K., Georgiev, A., Sahota, V., Mendez- Castro, R. & Pennetta, G. (2013) Increased levels of phosphoinositides cause neurodegeneration in a Drosophila model of amyotrophic lateral sclerosis. Human Molecular Genetics, 22 (13), pp.2689–2704.

Miller, J.P., Yates, B.E., Al-Ramahi, I., Berman, A.E., Sanhueza, M., Kim, E., de Haro, M., DeGiacomo, F., Torcassi, C., Holcomb, J., Gafni, J., Mooney, S.D., Botas, J., Ellerby, L.M. & Hughes, R.E. (2012) A Genome-Scale RNA–Interference Screen Identifies RRAS Signaling as a Pathologic Feature of Huntington's Disease. PLoS Genetics, 8 (11), p.e1003042.

Baeza, M., Bravo, N., Sanhueza, M., Flores, O., Villarreal, P. & Cifuentes, V. (2012) Molecular characterization of totiviruses in Xanthophyllomyces dendrorhous. Virology Journal, 9, p.e140.

Miller, J., Holcomb, J., Al-Ramahi, I., De Haro, M., Gafni, J., Zhang, N., Kim, E., Sanhueza, M., Torcassi, C., Kwak, S., Botas, J., Hughes, R. & Ellerby, L. (2010) Matrix metalloproteinases are modifiers of Huntingtin proteolysis and toxicity in Huntington’s disease. Neuron. 67 (2), pp.199-212.

Baeza, M., Sanhueza, M., Flores, O., Oviedo, V., Libkind, D. & Cifuentes, V. (2009) Polymorphism of viral dsRNA in Xanthophyllomyces dendrorhous strains isolated from different geographic areas. Virology Journal, 6, p.e160.

Baeza, M., Sanhueza, M. & Cifuentes, V. (2008) Occurrence of killer yeast strain in industrial and clinical yeast isolates. Biological Research. 41, pp.173-182.


1. Search for new modifiers of neurodegeneration

Using the genetic power of the fly, we perform samples in its genome looking for pathogenicity modifiers in models of neurodegenerative diseases such as amyotrophic lateral sclerosis and Alzheimer's and Parkinson's diseases.

2. Role of lipid metabolism in neurodegeneration and aging

We seek to understand the potential role of lipid metabolism enzymes by modulating neurodegeneration mechanisms and altered processes in aging. For this we use genetic and dietary approaches, especially in the nervous system of the fly.

3. Epigenetic regulation of mitochondrial activity

The post-translational regulation of key proteins in maintenance processes and response to mitochondrial stress is a focus that we aim to know as a way of modulating neurodegenerative processes and altered aging.


Name: Combination of zebrafish and Drosophila models to solve the biological function of the mab21l2 gene during eye formation.

Title: Formación de REDES Internacionales

Sponsor Institution : CONICYT

Responsible Investigator: Leonardo Valdivia

Other Investigator: Mario Sanhueza

Date of Execution: 2018-2020

Name: Strengthening research in neurodegenaration and aging.

Title: Subvención a la Instalación en la academia

Sponsor Institution: PAI - Conicyt

Responsible Investigator: Mario Sanhueza

Date of Execution 2019-2021



Dr. Ismael Al-Ramahi - Baylor College of Medicine, Houston TX.

Dr. Giusseppa Pennetta - University of Edinburgh, UK.

Dr. Henrich Jasper - Genentech, San Francisco CA.

Dr. Pejmun Haghighi - The Buck Institute, Novato CA.


Dr. Alejandro Rojas - Universidad Austral, Valdivia

Dr. Fabiola Osorio - Universidad de Chile, Santiago

Dr. Jorge Campusano - Pontificia Universidad Catolica, Santiago