Current Methods in Mitochondrial Medicine

TOPICAL COLLECTIONS

Guest Editors

Michele Brischigliaro

University of Padua, Department of Biomedical Sciences, Italy

Michele Brischigliaro is a post-doctoral research fellow at the Department of Biomedical sciences of the University of Padua – UniPD, Italy. He is a Biotechnologist with a PhD in Biosciences (Genetics, Genomics and Bioinformatics) received from UniPD in 2021. His research focuses on various aspects of mitochondrial biology in health and disease conditions. He is specialized in the development and study of Drosophila melanogaster models for mitochondrial diseases linked to faulty respiratory chain biogenesis and function. For his work, he combines genetic, molecular, biochemical, and proteomic approaches. His goal is elucidating the pathogenic mechanisms behind genetic defects causing mitochondrial dysfunction to develop and test targeted therapeutic strategies.

Pedro Silva-Pinheiro

University of Cambridge, MRC-MBU, UK

Pedro Silva-Pinheiro is a Staff Scientist at the MRC Mitochondrial Biology Unit in Cambridge, UK. He received his BS in Genetics and Biotechnology and a MSc in Molecular Medicine from the University of Porto, Portugal. During his MSc, Silva-Pinheiro was awarded a Fulbright Scholarship allowing to carry his research at the University of Alabama in Birmingham, US, studying the effects of mitochondrial DNA mutations in lipid metabolism. Then, he joined the group of Massimo Zeviani in the MRC Mitochondrial Biology Unit, University of Cambridge supported by a Marie Skłodowska-Curie PhD studentship. During his PhD, Silva-Pinheiro focused on the pathogenesis and development of therapies for mitochondrial diseases using mouse models. Currently, Silva-Pinheiro’s research interests lie on the development and application of new methods for manipulation of the mitochondrial DNA (TALE nucleases and base editors - DdCBEs), allowing for the generation of new models of mitochondrial disease and novel therapeutic platforms.

Cristiane Beninca

University of California, Los Angeles

Cristiane Beninca is the scientific director of the imaging division at UCLA Metabolism & Bioenergetics Core. She is a biologist with a PhD in human genetics, working in mitochondria biology and specialized in advanced microscopy techniques using super-resolution, confocal and transmission electron microscopy. She received her PhD in 2012 from the University of Barcelona (CSIC – IBMB) working on G proteins signaling at the mitochondria. After that, she worked in different countries and research institutions like CNIC-Spain, UFPR-Brazil and MRC/MBU-UK but always focused on mitochondria biology and imaging. Currently, she is working on the development of imaging and analysis techniques for mitochondria microscopy, as well as collaborating with pharmaceutical companies in drug discovery for mitochondrial diseases.

Collection Overview

Mitochondrial diseases are a large group of genetic disorders due to faulty respiratory chain and caused by mutations in genes encoded by either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). Mitochondrial diseases have a high degree of pathophysiological complexity from both the genetic and clinical point of view. More than 340 different genes have already been linked to mitochondrial disease over the last 60 years, but the list is constantly updated, as disorders can potentially arise from mutations in any of the >1500 genes encoding proteins directly or indirectly involved in mitochondrial function. The complexity of mitochondrial diseases reflects the multifaceted nature of the organelle, whose main function is the production of ATP through the oxidative phosphorylation system (OXPHOS), which in turn is linked to several biological processes e.g., mtDNA replication, transcription, translation, protein import and folding, multimeric enzyme assembly, and many others. Moreover, mitochondria are crucial to cell fitness, as they play major roles in several pathways, such as apoptosis and cell calcium homeostasis. In addition, they undergo highly specific dynamic changes (biogenesis, mitophagy, fission, fusion) based on the cell metabolic state. Tremendous efforts have been made to develop techniques for measuring, visualizing, and manipulating diverse mitochondrial and cellular functions for both diagnostic and research purposes. The scope of this collection is to gather well-established, emerging, and cutting-edge methodologies in mitochondrial biology and medicine.