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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.
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.
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