Mitochondrial Diseases

Placido Navas obtained the PhD at the University of Seville, Spain. He developed a Fulbright postdoc with J. D. Morre 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 Investigacion Biomedicaen 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.

lt;br>PrefaceChapter 1 Two genomes connection: biogenesis of mitochondria respiratory chain
Chapter 2  Nuclear DNA: mutations in structural subunits and assembly factorsChapter 3 Defects of mtDNAChapter 4 MtDNA maintenance genes and depletionChapter 5 Defects in mitochondrial protein synthesisChapter 6 Defects in mitochondria dynamicsChapter 7 CoQ biosynthesis disordersChapter 8 Cytochrome c mutationsChapter 9 Biochemical approaches for mitochondrial diseases diagnosisChapter 10 Molecular genetics in the Next Generation Sequencing era Chapter 11 Model cells and organismsChapter 12  Metabolomics and proteomics: complementary toolsChapter 13 Therapies approaches in mitochondrial diseasesIndex