November 26, 2020
Date: 10 December, 2020
Presenter: Prof. Edmund Kunji, PhD, Professor of Biophysics, University of Cambridge, Cambridge, UK
Time: 8 am (PT), 11 am (ET), 4 pm (GMT), 5 pm (CET)
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.
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