Summary
This narrative review, published in Signal Transduction and Targeted Therapy in 2025, provides a comprehensive overview of the pathophysiology of mitochondrial diseases, from the genetic and biochemical mechanisms that disrupt oxidative phosphorylation to the range of therapeutic advances being investigated. It likely synthesises evidence across multiple disease subtypes, covering both nuclear and mitochondrial DNA mutations. The paper is likely intended as a reference resource for clinicians and researchers working on mitochondrial medicine and drug development.
UK applicability
Mitochondrial diseases affect approximately 1 in 5,000 individuals in the UK, and the UK has been at the forefront of mitochondrial replacement therapy regulation; findings and therapeutic strategies discussed in this review are therefore directly relevant to UK clinical practice, NHS specialist services, and ongoing regulatory frameworks.
Key measures
Molecular pathways of mitochondrial dysfunction; classification of mitochondrial diseases; therapeutic targets and clinical outcomes reported in reviewed studies
Outcomes reported
The paper reviews the molecular mechanisms underlying mitochondrial diseases and surveys current and emerging therapeutic approaches, likely including gene therapy, pharmacological interventions, and mitochondrial replacement strategies.
Topic tags
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