Mitochondrial diseases reveal just how deeply energy production is tied to human health. Martin Picard uses the story of a young woman with Kearns-Sayre syndrome to show how impaired mitochondria can affect seemingly unrelated functions, from movement and blinking to wound healing, immunity, and the ability to recover from ordinary activities.

The article explains that mitochondrial diseases are caused by genetic defects in either mitochondrial DNA or nuclear DNA that disrupt mitochondrial function, particularly the production of ATP through oxidative phosphorylation. Because mitochondria are involved in nearly every cell and organ system, symptoms can vary dramatically between people, even among those with the same mutation.

Picard also explores the emerging relationship between mitochondrial biology and psychological experience. Early research suggests that stress, mood, and other life experiences may be associated with mitochondrial function, while mitochondrial dysfunction may influence how people experience fatigue, pain, and other symptoms. He emphasizes that these findings are still early and largely associative, not proof of cause and effect.

https://tseenergy.substack.com/p/what-are-mitochondrial-diseases