ArticlePloS one2022
Prevalence and health care costs of mitochondrial disease in Ontario, Canada: A population-based cohort study.
Article in PloS one, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data.Orphanet journal of rare diseases · 2023Pooled it
- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
- Mitochondrial Disorder in a Child With Brainstem Lesions Mimicking Thiamine Deficiency.Cureus · 2025Article
- Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups.JIMD reports · 2025Article
- HPDL Variant Type Correlates With Clinical Disease Onset and Severity.Annals of clinical and translational neurology · 2025Observational
- A population-based cohort study of mitochondrial disease and mental health conditions in Ontario, Canada.Orphanet journal of rare diseases · 2025Article
- Preliminary investigation on the economic cost of mitochondrial disease in Chinese children.Orphanet journal of rare diseases · 2025Article
- Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics.Science advances · 2025Article
- Preclinical models of mitochondrial dysfunction: mtDNA and nuclear-encoded regulators in diverse pathologies.Frontiers in aging · 2025Review
- mtDNA deletion m.8753_16566 with < 10 % heteroplasmy in muscle and isolated complex-V dysfunction misinterpreted as chronic fatigue syndrome over 21-years.Clinics (Sao Paulo, Brazil) · 2025Article
- The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews.Therapeutic advances in chronic disease · 2025Article
- Clinical features and treatment of stroke-like episodes in mitochondrial disease: a cohort-based study.Journal of neurology · 2024Observational
- Understanding coenzyme Q.Physiological reviews · 2024Review
- Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.Orphanet journal of rare diseases · 2024Article
- Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.Annals of clinical and translational neurology · 2024Article
- Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.Journal of neurology · 2024Article
- Clinical drivers of hospitalisation in patients with mitochondrial diseases.BMJ neurology open · 2024Article
- Review
- Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting.Orphanet journal of rare diseases · 2023Article
- Mitochondrion-targeted RNA therapies as a potential treatment strategy for mitochondrial diseases.Molecular therapy. Nucleic acids · 2022Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMitochondrial disease prevalence has been estimated at 1 in 4000 in the United States, and 1 in 5000 worldwide. Prevalence in Canada has not been established, though multi-linked health administrative data resources present a unique opportunity to establish robust population-based estimates in a single-payer health system. This study used administrative data for the Ontario, Canada population between April 1988 and March 2019 to measure mitochondrial disease prevalence and describe patient characteristics and health care costs.
results3069 unique individuals were hospitalized with mitochondrial disease in Ontario and eligible for the study cohort, representing a period prevalence of 2.51 per 10,000 or 1 in 3989. First hospitalization was most common between ages 0-9 or 50-69. The mitochondrial disease population experiences a high need for health care and incurred high costs (mean = CAD$24,023 in 12 months before first hospitalization) within the single-payer Ontario health care system.
conclusionsThis study provides needed insight into mitochondrial disease in Canada, and demonstrates the high health burden on patients. The methodology used can be adapted across jurisdictions with similar routine collection of health data, such as in other Canadian provinces. Future work should seek to validate this approach via record linkage of existing disease cohorts in Ontario, and identify specific comorbidities with mitochondrial disease that may contribute to high health resource utilization.
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