Date: December 10 2020
Presenter(s): Prof. Edmund Kunji, PhD
Summary of the presentation:
Members of the mitochondrial carrier family (SLC25) transport inorganic ions, nucleotides, amino acids, carboxylic acids, fatty acids and vitamins across the inner membrane of mitochondria. These transport steps provide building blocks for the maintenance of the cell and link the biochemical pathways of the mitochondrial matrix and the cytosol. They are crucial for many important physiological processes, such as the synthesis of ATP from the oxidation of fats and sugars, amino acid metabolism, lipid and steroid synthesis, ion homeostasis, haem synthesis, iron-sulphur cluster synthesis, signalling, macromolecular synthesis, heat production, development, cellular differentiation and cell death. An ever-increasing number of pathologies has been associated with their dysfunction due to nonsense and missense mutations. These diseases affect various organs in diverse ways at different stages of life, and they are much more common than originally thought. Here, we will explain the molecular basis of the diseases caused by missense mutations, based on our current understanding of the transport mechanism of mitochondrial carriers. The analysis highlights sequence regions of mitochondrial carriers with a high frequency of pathogenic mutations. Most of these mutations might affect their structure and function, but some might interfere with their expression, targeting, insertion and folding. This analysis may aid the identification of novel disease variants of mitochondrial carriers and associated mitochondrial diseases.
About the presenter:
Professor of Biophysics, Medical Research Council Mitochondrial Biology Unit / Department of Clinical Neurosciences, University of Cambridge, UK
Edmund Kunji studied Physics, Mathematics, Biology and Chemistry at the University of Groningen and Visual Arts at the Art Academy Minerva, Groningen, The Netherlands. He obtained an MSc in Biology in 1990 and an MSc in Chemistry in 1991. He carried out his postgraduate studies at the Department of Molecular Microbiology, University of Groningen under the supervision of Profs. Konings and Poolman, and in 1997 obtained his PhD in Mathematics and Natural Sciences with the distinction Cum Laude. From 1996 – 2000 he was an EMBO Postdoctoral Fellow in the group of Dr Richard Henderson at Medical Research Council, Laboratory of Molecular Biology, Cambridge. In 2000 he was appointed Research Group Leader at the Medical Research Council Mitochondrial Biology Unit by Prof. Sir John Walker. In 2003 he received the Young Investigators Award of the European Molecular Biology Organisation and in 2005 he was elected Staff Fellow and Director of Studies of Trinity Hall. In 2019 he became Professor of Biophysics at the University of Cambridge. He works with his group on transport processes in mitochondria, which are important in human physiology and disease.