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Disease

Mitochondrial Diseases

Late-stage therapeutic developmentEmerging researchRising momentum
11
Publications
15
Clinical trials
2
Related conditions
2025
Latest publication
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

Mitochondrial dysfunction: mechanisms and advances in therapy.

Research2024-05-15Signal transduction and targeted therapy

Mitochondrial dysfunction in neurodegenerative disorders.

Research2023-12-19Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Targeting memory T cell metabolism to improve immunity.

Research2022-01-01The Journal of clinical investigation

The Pathogenesis of Sepsis and Potential Therapeutic Targets.

Research2019-10-29International journal of molecular sciences

Assessing mitochondrial dysfunction in cells.

Research2011-04-01The Biochemical journal

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Clinical trials

10 sponsors · 1 new · 0 completed in the last 12 months (net +1)

The current development programme across all trial phases.

Clinical programme
15
All trials
3
Active
4
Late-stage
6
Completed
Recently completed

Research activity

11 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20092025
Most influential

Assessing mitochondrial dysfunction in cells.

The Biochemical journal · 2011 · 1,879 cites

Mitochondrial dysfunction: mechanisms and advances in therapy.

Signal transduction and targeted therapy · 2024 · 614 cites

The Pathogenesis of Sepsis and Potential Therapeutic Targets.

International journal of molecular sciences · 2019 · 526 cites

Mitochondrial dysfunction in neurodegenerative disorders.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024 · 201 cites
Recent publications

Mitochondrial dysfunction: mechanisms and advances in therapy.

Signal transduction and targeted therapy · 2024 · 614 cites

Mitochondrial dysfunction in neurodegenerative disorders.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024 · 201 cites
Major themes8
  • Mitochondrial Diseases4
  • Mitochondria2
  • Alzheimer Disease1
  • Autism Spectrum Disorder1
  • Autophagy1
  • Clinical Laboratory Techniques1
  • Colitis, Ulcerative1
  • Crohn Disease1
Leading journals6
  • International journal of molecular sciences2
  • Molecular psychiatry2
  • EBioMedicine1
  • Human molecular genetics1
  • Journal of neuroinflammation1
  • Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics1
Leading researchers8
  • Amal H1
  • Borrowman SH1
  • Brand MD1
  • Cai S1
  • Chan DC1
  • Chandra B1
  • Chen H1
  • Chen J1
Affiliations (unnormalised)6
  • Albert Szent-Györgyi Clinical Center1
  • Biomedical Research Center of South China1
  • Buck Institute for Research on Aging1
  • Centre for Orthopaedic Research1
  • Clinical Laboratory1
  • Division of Biology and Howard Hughes Medical Institute1

Related conditions

2 matches

Diseases frequently studied alongside this one. Number shows shared papers.

Disease profile

A grounded synthesis of the condition — overview, causes, mechanism, risk factors and current standard of care.

Overview

Mitochondrial diseases are disorders caused by abnormal mitochondrial function. They can arise from mutations in mitochondrial DNA or in nuclear genes that encode mitochondrial components, and they may also result from acquired mitochondrial dysfunction due to drugs, infections, or other environmental causes.

Causes

Known causes include inherited or acquired mutations in mitochondrial DNA and nuclear genes that code for mitochondrial components. The grounding also supports acquired mitochondrial dysfunction from adverse effects of drugs, infections, and other environmental causes.

Pathophysiology

The core biological problem is impaired mitochondrial function, especially reduced ability to generate ATP appropriately in response to energy demand. The literature grounding also links disease biology to altered electron transport, energy metabolism, autophagy, and mitophagy, reflecting defective maintenance and turnover of mitochondria.

Risk factors

Genetic susceptibility from mutations in mitochondrial DNA or nuclear genes increases risk. Acquired exposures such as drugs, infections, and other environmental causes can also increase risk by inducing mitochondrial dysfunction.

Current standard of care

The supplied grounding supports therapy as a general aspect of management but does not provide disease-specific standard treatments. It indicates that mitochondrial dysfunction is a therapeutic target and mentions emerging strategies such as mitochondrial replacement or replenishment approaches, but not a standard modality for all mitochondrial diseases.

AI-generated summary grounded in MeSH and 6 peer-reviewed sources. Informational only — not medical advice. Generated 2026-07-07.

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.