Mitochondrial Diseases: Theory, Diagnosis and Therapy

ISBN-13: 9783030701468 / Angielski / Twarda / 2021 / 305 str.

Placido Navas; Leonardo Salviati

Spis treści

Preface

Chapter 1 Two genomes connection: biogenesis of mitochondria respiratory chain
Chapter 2  Nuclear DNA: mutations in structural subunits and assembly factors

Chapter 3 Defects of mtDNA

Chapter 4 MtDNA maintenance genes and depletion

Chapter 5 Defects in mitochondrial protein synthesis

Chapter 6 Defects in mitochondria dynamics

Chapter 7 CoQ biosynthesis disorders

Chapter 8 Cytochrome c mutations

Chapter 9 Biochemical approaches for mitochondrial diseases diagnosis

Chapter 10 Molecular genetics in the Next Generation Sequencing era 

Chapter 11 Model cells and organisms

Chapter 12  Metabolomics and proteomics: complementary tools

Chapter 13 Therapies approaches in mitochondrial diseases

Index

O autorze

Plácido Navas obtained the PhD at the University of Seville, Spain. He developed a Fulbright postdoc with J. D. Morré and F. L. Crane at Purdue University, Indiana. After a period of Associate Professor at the University of Cordoba, he became Professor of Cell Biology at the University Pablo de Olavide, Seville, principal investigator at the Centro de Investigación Biomédicaen Red (CIBER) of Rare Diseases, and he is the current Director of the Andalussian Center for Developmental Biology (CABD). His research has focused on the coenzyme Q homeostasis in respiratory chain and aging, and on the molecular diagnosis of coenzyme Q deficiency syndrome.

Leonardo Salviati obtained his MD and PhD degrees at the University of Padova in Italy. After a postdoctoral fellowship in the labs of Salvatore Di Mauro and Eric Schon at Columbia University in New York, he was recruited by the department of Pediatrics of the University of Padova, where he is currently professor of Medical Genetics, and director of the Clinical Genetics Unit and of the Medical Genetics Residency Program. His research has focused on mitochondrial disorders, with a particular focus on coenzyme Q deficiency.

Blurb

Mitochondrial diseases comprise a clinically and genetically heterogeneous group of rare disorders that may affect virtually any system of the body at any age. Due to their complexity, understanding and diagnosing these diseases requires a multidisciplinary approach.

This book provides an update on the major features of human mitochondrial diseases: genetic bases, pathophysiology, diagnosis, and treatment, and of the new technologies involved in the diagnosis and on the characterization of patients. The 11 chapters examine the unique complex interactions between the mitochondrial and the nuclear genomes involved in the biogenesis and the regulation of the mitochondrial respiratory chain, and their relevance to human disease. We discuss the traditional biochemical and genetic approaches, as well as the new omic technologies, and the cellular and animal models used in mitochondrial research. The last chapter is dedicated to the current treatment options.

Authors are worldwide experts in these fields and integrate expertise in both basic science and clinical research.

This book is particularly important for both scientists and clinicians interested in the diagnosis and treatment of these diseases.