Mitochondrial Medicine: A Primer for Health Care Providers and Translational Researchers

ISBN-13: 9780128170069 / Angielski / Miękka / 2019 / 138 str.

Pankaj Prasun

Spis treści

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

O autorze

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.