Determinants of Neuronal Susceptibility to Mitochondrial Disease

Dear Colleagues,

Mutations that render mitochondria unable to generate energy cause a group of rare and usually fatal pathologies collectively known as mitochondrial disease. It has been estimated that 1 in 5000 children will develop a mitochondrial disease. Currently, there is no cure for mitochondrial disease and the treatments available are mostly ineffective. Energy-demanding cells such as neurons are especially sensitive to mitochondrial disease, and they account for most of the clinical signs and symptoms observed in humans, such as hypotonia, ataxia, seizures and early death. However, even if every single cell in the body carries the mutation, only specific brain areas seem to be affected by the deficiency. The advent of novel approaches at the genetic, metabolic and proteomic level with cell-type and single-cell resolution are furthering our knowledge of the molecular underpinnings of neuronal fate in the context of mitochondrial dysfunction.

Our Topical Collection focuses on collecting research on the neuronal populations susceptible to mitochondrial disease and the mechanisms which cause these neurons to die. This knowledge is essential in order to understand and fight these incurable diseases.

Dr. Albert Quintana
Collection Editor

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