Michelangelo Mancuso - Diagnosis and Management of Mitochondrial Disorders

The initial spark of the mitochondrial revolution in medicine was the description, in 1988, of the first pathogenic mutations in mitochondrial DNA (mtDNA). Anita Harding and her team identified large-scale single deletions of mtDNA in patients with mitochondrial myopathies [1]. Soon thereafter, Doug Wallace and his team described a point mutation in the gene encoding subunit 4 of complex I in a family with Lebers hereditary optic neuropathy [2].

With the publication of this book in early 2019, we celebrate the 30th anniversary of these groundbreaking discoveries. The last 30 years have been the golden age of mitochondrial medicine, with hundreds of genes responsible for multiple genetic mitochondrial disorders being identified.

Mitochondrial diseases are now recognized as one of the most common genetic conditions worldwide, and the phenotypic expression involves all the disciplines of medicine.

We hope that we have been able to convey, with this book, the excitement that has accompaniedas it still doesthe extraordinarily rapid development of mitochondrial medicine. The therapeutic era has just begun, and we are confident to see similarly exciting progress in the next few years.

It has been a great experience to serve as editors for this special book. We would like to express our special gratitude to all contributing authors for their timely and superb efforts in composing this monography.

Finally, this book is dedicated to our great mentor, Professor Salvatore Billi DiMauro. The enormous and still ongoing progress in our understanding of mitochondrial medicine is only possible by an intense collaboration of a team of international mitochondriologists , many of whom have been trained in the College of Physicians and Surgeons, Columbia University Medical Center, NY, under the guidance of Billi.