Introduction

Discovery Engine: Mapping Mitochondria to Health and Medicine

Mitochondria are the Missing Link to Human Physiology, Medicine, Health and Wellness.
Mitochondrial Pathophysiology
Primary, Secondary Mitochondrial Disease & Mitochondrial Dysfunction

Mitochondria are responsible for the ATP lifeforce that animates all of life including the operations of all cells and their nuclei. They are also responsible for a very wide range of pathophysiology and dysfunction.

1. Primary mitochondrial diseases
Primary mitochondrial diseases (PMDs) are mitochondrial disorders caused by germline mutations in mitochondrial DNA and/or nuclear DNA genes that encode either oxidative phosphorylation (ATP) structural proteins or mitochondrial proteins within the complex machinery needed to sustain life.

2. Secondary mitochondrial diseases
Secondary mitochondrial diseases (SMDs) can be the result of mutations in genes not directly related to oxida- tive phosphorylation. They can also be acquired during the pathogenesis of certain conditions, such as the al- terations in pathways regulating mitochondrial functions or adverse factors causing oxidative stress that can affect or worsen disease as seen in neurodevelopmental and neurodegenerative diseases as well as diabetes, cancer, and aging. Secondary mitochondrial diseases can be inherited or acquired differently from PMDs.

3. Mitochondrial dysfunctions
There are numerous mitochondrial dysfunctions, some serious, without clear genetic pathways that are far more common than realized. Aging, itself, has numerous mitochondrial contributors. Many forms of stress, diet and lack of sleep lead to a wide range of dysfunctions on Earth and in space.