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Mitochondrial Medicine: A Primer for Health Care Providers and Translational Researchers is an applied, holistic resource that addresses the evolving and multidisciplinary area of mitochondrial disease. The book discusses the fundamentals of mitochondrial medicine in humans, as well as the pathophysiology, diagnosis and treatment of mitochondrial diseases. Three all-inclusive sections examine the role of mitochondria in common medical conditions, such as diabetes, heart failure and the full range of inherited mitochondrial diseases. Sections cover the genetic and biochemical basis of both mitochondrial DNA deletion syndromes and point mutation syndromes, their clinical presentation, treatment plans, genetic counseling, prenatal testing, and ongoing research.
While providing a solid foundation in its topic area, each chapter in the book is written in an accessible format with illustrative case studies, thus making it a quick bedside or clinical laboratory reference.
- Includes a basic introduction to mitochondria and their misfunctions in human disease
- Presents current practice and research in mitochondrial medicine, with an emphasis on clinical presentation, diagnosis, treatment, genetic counseling and prenatal testing
- Features short, accessible chapters with illustrative case studies for quick reference
- Provides thorough coverage of inherited mitochondrial disorders, as well as the role of mitochondria in common medical conditions
Active clinical and translational researchers across genetics, genomics, molecular biology, molecular diagnostics, developmental biology, and bioinformatics; pharmacologists; genetic counselors; physicians, medical trainees, and students of internal medicine, family medicine, neurology, medical genetics, and pediatrics, among other specialties
Section 1: Basics of mitochondrial medicine
1. Functions of mitochondria
2. Clinical presentation of mitochondrial diseases
3. Mitochondrial genetics
4. Diagnosis of mitochondrial diseases
5. Treatment of mitochondrial diseases
6. Genetic counseling, prenatal diagnosis, and reproductive options of mitochondrial diseases
Section 2: Inherited mitochondrial diseases
Mitochondrial DNA deletion syndromes
7. Kearns-Sayre syndrome
8. Pearson syndrome
9. Progressive external ophthalmoplegia
Mitochondrial DNA point mutation syndromes
13. Mitochondrial DNA associated Leigh and NARP syndromes
Section 3: Mitochondrial disease of nuclear origin
Mitochondrial DNA depletion syndrome
15. POLG related disorders
19. Disorders of mitochondrial translation
20. Disorders of mitochondrial fission and fusion
Mitochondria and common medical conditions
21. Mitochondria and aging
22. Mitochondria and diabetes
23. Mitochondria in obesity and metabolic syndrome
24. Mitochondria and heart disease
25. Mitochondria in neurodegenerative diseases
26. Mitochondria and cancer
- No. of pages:
- © Academic Press 2019
- 21st May 2019
- Academic Press
- Paperback ISBN:
- eBook ISBN:
Dr. Pankaj Prasun is an Assistant Professor of Genetics & Genomics, within the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, New York, NY. Dr. Prasun is board certified by the American Boards of Pediatrics in clinical genetics and medical biochemical genetics. He has a special interest in mitochondrial disorders and runs a mitochondrial clinic at the Icahn School of Medicine. He has more than 15 publications as first author and is editor-in-chief of the Journal of Paediatric Genetics.
Assistant Professor, Genetics and Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA
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