Full Description
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.
Contents
Chapter 1. MTOCHONRIAL NEUROLOGY: A TALE OF TWO GENOMES (Salvatore DiMauro and Emanuele Barca).- Chapter 2. Mutations in assembly factors required for the biogenesis of mitochondrial respiratory chain (Cristina Cerqua, Lisa Buson and Eva Trevisson).- Chapter 3. Mitochondrial DNA: defects, maintenance genes and depletion (Miguel A. Fernández-Moreno, Luis Vázquez-Fonseca, Sara Palacios Zambrano and Rafael Garesse).- Chapter 4. Mitochondrial translation deficiencies (Veronika Boczonadi, Juliane S. Müller and Rita Horvath).- Chapter 5. Mitochondria dynamics: definition, players and associated disorders (Maria EugeniaSoriano, Marta Carro Alvarellos, Giovanni Rigoni, and Luca Scorrano).- Chapter 6. Coenzyme Q biosynthesis disorders (Gloria Brea-Calvo, María Alcázar-Fabra, Eva Trevisson and Plácido Navas).- Chapter 7. Cytochrome c defects in human disease (Leonardo Salviati).- Chapter 8. Biochemical diagnosis of mitocondrial disorders (Delia Yubero, Raquel Montero, Rafael Artuch).- Chapter 9. Molecular genetics in the Next Generation Sequencing era (Joaquin Dopazo).- Chapter 10. Model cells and organisms in mitochondrial diseases (Rhoda Stefanatos, Alberto Sanz, Daniel J M Fernandez-Ayala).- Chapter 11. Therapies approaches in mitochondrial diseases (Valentina Emmanuele, Catarina M Quinzii, and Michio Hirano).
