Pankaj Prasun

Mitochondrial Medicine (eBook, ePUB)

A Primer for Health Care Providers and Translational Researchers

• Format: ePub

Produktbeschreibung

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

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Produktdetails

• Verlag: Elsevier Science & Techn.
• Seitenzahl: 138
• Erscheinungstermin: 18. Mai 2019
• Englisch
• ISBN-13: 9780128170076
• Artikelnr.: 56790188

Autorenporträt

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.

Inhaltsangabe

Section 1: Basics of mitochondrial medicine1. Functions of mitochondria2. Clinical presentation of mitochondrial diseases3. Mitochondrial genetics4. Diagnosis of mitochondrial diseases5. Treatment of mitochondrial diseases6. Genetic counseling, prenatal diagnosis, and reproductive options of mitochondrial diseases

Section 2: Inherited mitochondrial diseasesMitochondrial DNA deletion syndromes7. Kearns-Sayre syndrome8. Pearson syndrome9. Progressive external ophthalmoplegia

Mitochondrial DNA point mutation syndromes10. MELAS11. MERRF12. LHON13. Mitochondrial DNA associated Leigh and NARP syndromes14. MIDD

Section 3: Mitochondrial disease of nuclear originMitochondrial DNA depletion syndrome15. POLG related disorders16. MPV1717. DGUOK18. MNGIE19. Disorders of mitochondrial translation20. Disorders of mitochondrial fission and fusion

Mitochondria and common medical conditions21. Mitochondria and aging22. Mitochondria and diabetes23. Mitochondria in obesity and metabolic syndrome24. Mitochondria and heart disease25. Mitochondria in neurodegenerative diseases26. Mitochondria and cancer