Book contents
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Storage Diseases
- Kernicterus
- Mitochondrial Diseases
- Chapter 62 Clinicopathological Features of Mitochondrial Diseases
- Maternal Toxin Exposure
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Chapter 62 - Clinicopathological Features of Mitochondrial Diseases
from Mitochondrial Diseases
Published online by Cambridge University Press: 07 August 2021
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Storage Diseases
- Kernicterus
- Mitochondrial Diseases
- Chapter 62 Clinicopathological Features of Mitochondrial Diseases
- Maternal Toxin Exposure
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Summary
Mitochondrial diseases (MDs) comprise more than 150 conditions that develop due to mitochondrial dysfunction caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Mitochondria play a leading role in energy production in the cell, but also take part in iron-sulfur clusters synthesis, reactive oxygen species (ROS) synthesis, calcium homeostasis, lipid membrane maintenance, apoptosis programming, and immune system support (antiviral signaling, antigen presentation, and direct infectious agents killing with ROS). Therefore, mitochondrial abnormalities may also contribute to the development of neurodegenerative, cardiovascular, and endocrinological diseases, including neoplasms. MDs may manifest at any age, affect any organ or system, and change the severity of symptoms over time. The most vulnerable tissues for mitochondrial dysfunction are the brain, muscles, retina, and heart – all of which require a lot of energy and mostly rely on aerobic reactions to obtain it. MDs are among the most common inherited metabolic and neuromuscular disorders [1, 2].
- Type
- Chapter
- Information
- Perinatal Neuropathology , pp. 391 - 402Publisher: Cambridge University PressPrint publication year: 2021