ArticleJIMD reports2016
Causes of Death in Adults with Mitochondrial Disease.
Article in JIMD reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Biomarkers for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS): a systematic review.BMC medicine · 2023Pooled it
- Maternal age as a driver of genome instability: mechanisms linking aneuploidy, mutagenesis and mitochondrial dysfunction.Archives of toxicology · 2026Review
- Metabolomic signature reveals dysregulated lipoprotein profile in m.3243A>G carriers: a case-control study.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Mitochondrial disease management through phytochemical interventions.Molecular and cellular biochemistry · 2025Review
- Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives.Journal of patient-reported outcomes · 2025Article
- Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.Neurology · 2025Observational
- Chimeric mitochondrial RNA transcripts predict mitochondrial genome deletion mutations in mitochondrial genetic diseases and aging.Genome research · 2025Article
- Mitochondrial DNA Deletion Mutations: A Molecular Cause of Age-Induced Skeletal Muscle Fiber Dysfunction and Fiber Death Contributing to Sarcopenia.Advances in experimental medicine and biology · 2025Review
- A platform to map the mind-mitochondria connection and the hallmarks of psychobiology: the MiSBIE study.Trends in endocrinology and metabolism: TEM · 2024Review
- Hypermetabolism and energetic constraints in mitochondrial disorders.Nature metabolism · 2024Article
- Characterization of Fatigue in Primary Mitochondrial Myopathies: Findings From a Qualitative Interview Study.Neurology. Clinical practice · 2024Article
- Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes.Brain communications · 2024Article
- OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.Communications biology · 2023Article
- A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations.Scientific data · 2022Article
- Leukocyte cytokine responses in adult patients with mitochondrial DNA defects.Journal of molecular medicine (Berlin, Germany) · 2022Article
- Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocrine reviews · 2022Article
- Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder.Open heart · 2022Article
- Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.Internal medicine journal · 2022Article
- Mitochondrial Disorders.Deutsches Arzteblatt international · 2021Review
- Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study.The patient · 2021Article
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6 authors.
Funding
Abstract
introductionMitochondrial diseases are a clinically, biochemically and genetically heterogeneous group of disorders with a variable age of onset and rate of disease progression. It might therefore be expected that this variation be reflected in the age and cause of death. However, to date, little has been reported regarding the 'end-of-life' period and causes of death in mitochondrial disease patients. For some specific syndromes, the associated clinical problems might predict the cause of death, but for many patients, it remains difficult to provide an accurate prognosis.
aimsTo describe a retrospective cohort of adult mitochondrial disease patients who had attended the NHS Highly Specialised Services for Rare Mitochondrial Diseases in Newcastle upon Tyne (UK), evaluate life expectancy and causes of death and assess the consequences for daily patient care.
methodsAll deceased adult patients cared for at this centre over a period of 10 years were included in the study. Patient history, data on laboratory findings, biochemical investigations and genetic studies were analysed retrospectively.
resultsA total of 30 adult mitochondrial patients died within the time period of the study. The main mitochondrial disease-related causes of death in this patient cohort were respiratory failure, cardiac failure and acute cerebral incidents such as seizures and strokes. In almost half of the patients, the cause of death remained unknown. Based on our study, we present recommendations regarding the care of patients with mitochondrial disease.
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