Mitochondrial dysfunction and molecular pathways of disease

Topic: Brain proteins, microglia and lab models

Since the first mitochondrial dysfunction was described in the 1960s, the medicine has advanced in its understanding the role mitochondria play in health, disease, and aging. A wide range of seemingly unrelated disorders, such as schizophrenia, bipolar disease, dementia, Alzheimer's disease, epilepsy, migraine headaches, strokes, neuropathic pain, Parkinson's disease, ataxia, transient ischemic attack, cardiomyopathy, coronary artery disease, chronic fatigue syndrome, fibromyalgia, retinitis pigmentosa, diabetes, hepatitis C, and primary biliary cirrhosis, have underlying pathophysiological mechanisms in common, namely reactive oxygen species (ROS) production, the accumulation of mitochondrial DNA (mtDNA) damage, resulting in mitochondrial dysfunction. Antioxidant therapies hold promise for improving mitochondrial performance. Physicians seeking systematic treatments for their patients might consider testing urinary organic acids to determine how best to treat them. If in the next 50 years advances in mitochondrial treatments match the immense increase in knowledge about mitochondrial function that has occurred in the last 50 years, mitochondrial diseases and dysfunction will largely be a medical triumph.

Key findings

• Since the first mitochondrial dysfunction was described in the 1960s, the medicine has advanced in its understanding the role mitochondria play in health, disease, and aging.
• A wide range of seemingly unrelated disorders, such as schizophrenia, bipolar disease, dementia, Alzheimer's disease, epilepsy, migraine headaches, strokes, neuropathic pain, Parkinson's disease, ataxia, transient ischemic attack, cardiomyopathy, coronary artery disease, chronic fatigue syndrome, fibromyalgia, retinitis pigmentosa, diabetes, hepatitis C, and primary biliary cirrhosis, have underlying pathophysiological mechanisms in common, namely reactive oxygen species (ROS) production, the accumulation of mitochondrial DNA (mtDNA) damage, resulting in mitochondrial dysfunction.
• Antioxidant therapies hold promise for improving mitochondrial performance.
• Physicians seeking systematic treatments for their patients might consider testing urinary organic acids to determine how best to treat them.
• If in the next 50 years advances in mitochondrial treatments match the immense increase in knowledge about mitochondrial function that has occurred in the last 50 years, mitochondrial diseases and dysfunction will largely be a medical triumph.

Why it matters

This review lists dementia and Alzheimer's disease among many disorders sharing underlying mechanisms of reactive oxygen species production and accumulation of mitochondrial DNA damage. It suggests antioxidant therapies hold promise for improving mitochondrial performance, but reports no tested treatment, cure or prevention for Alzheimer's disease.

New to this subject? Start with our plain-English guide: Risk factors, ranked →

Study details

• Evidence strengthLow

Read the original

• DOI: 10.1016/j.yexmp.2006.09.008
• PubMed: 17239370
• Original source →

May need a subscription OpenAlex found no free copy of the full text (checked 6 Feb 1020), so the publisher may charge for it. The PubMed abstract is free.

@article{pieczenik2007-17239370,
  author  = {Pieczenik, SR. and Neustadt, J.},
  title   = {{Mitochondrial dysfunction and molecular pathways of disease}},
  journal = {Experimental and molecular pathology},
  year    = {2007},
  doi     = {10.1016/j.yexmp.2006.09.008},
  pmid    = {17239370},
  url     = {https://doi.org/10.1016/j.yexmp.2006.09.008}
}

Related studies in Risk factors

• Inflammation, defective insulin signaling, and mitochondrial dysfunction as common molecular denominators connecting type 2 diabetes to Alzheimer disease Diabetes · 2014-06-15 · usefulness score 48/100
• Pathogenetic pathways of cognitive dysfunction and dementia in metabolic syndrome Life sciences · 2019-10-10 · usefulness score 68/100
• Traffic-Related Air Pollution and Incident Dementia: Direct and Indirect Pathways Through Metabolic Dysfunction Journal of Alzheimer's disease : JAD · 2020 · usefulness score 59/100
• Linking mitochondrial dysfunction, metabolic syndrome and stress signaling in Neurodegeneration Biochimica et biophysica acta. Molecular basis of disease · 2016-06-21 · usefulness score 39/100
• Oxidative stress and mitochondrial dysfunction-linked neurodegenerative disorders Neurological research · 2016-11-03 · usefulness score 38/100
• Oxidative stress and mitochondrial dysfunction in organophosphate pesticide-induced neurotoxicity and its amelioration: a review Environmental science and pollution research international · 2020-05-01 · usefulness score 38/100

Similar studies

• Mitochondriopathies 2004 · Clinical safety
• From mitochondrial dysfunction to amyloid beta formation: novel insights into the pathogenesis of Alzheimer's disease 2012 · Disease mechanisms
• The role of abnormal mitochondrial dynamics in the pathogenesis of Alzheimer's disease 2009 · Disease mechanisms
• Therapeutics for mitochondrial dysfunction-linked diseases in Down syndrome 2023 · Down syndrome and Alzheimer's
• Molecular pathophysiology of impaired glucose metabolism, mitochondrial dysfunction, and oxidative DNA damage in Alzheimer's disease brain 2017 · Disease mechanisms
• Mitochondrial DNA sequence variation in human evolution and disease 1994 · Brain tissue and pathology

More on Risk factors

• A review that covers this ground Common neurodegenerative pathways in obesity, diabetes, and Alzheimer's disease Biochimica et biophysica acta. Molecular basis of disease · 2016-05-06 · usefulness score 53/100
• Newest in this subject Neuroscience-Informed Psychoeducation for Dementia: From Network Degeneration to Compassionate and Skilled Care PsyArXiv · 2026-10-28 · Preprint — not yet peer-reviewed · usefulness score 16/100
• Newest in this subject Geographic Heterogeneity in the Association Between Schooling and Cognitive Change Among Older Adults in India medRxiv · 2026-10-28 · Preprint — not yet peer-reviewed · usefulness score 16/100

See all studies in Risk factors →