Observational studyJournal of inherited metabolic disease2017
Risk factors for poor bone health in primary mitochondrial disease.
Observational study in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05483738 (The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling), which is not on this map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling
Who cites it
19 citing papers in PubMed, 39 citations in OpenAlex.
- Mitigating mitochondrial dysfunction: a novel strategy for Chinese botanical drugs against osteoporosis.Frontiers in pharmacology · 2026Review
- Interpretable Machine Learning for Osteopenia Detection: A Proof-of-Concept Study Using Bioelectrical Impedance in Perimenopausal Women.Journal of functional morphology and kinesiology · 2025Article
- Disruption of Mitochondrial Quality Control in Inherited Metabolic Disorders.Molecular neurobiology · 2025Review
- Endocrine disorders in Kearns-Sayre syndrome with different severity of symptoms: two case reports and a literature review.European journal of translational myology · 2024Article
- Mini-encyclopedia of mitochondria-relevant nutraceuticals protecting health in primary and secondary care-clinically relevant 3PM innovation.The EPMA journal · 2024Article
- Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?International journal of molecular sciences · 2023Review
- Skeletal Health in Patients With Mitochondrial Diabetes: Case Series and Review of Literature.JBMR plus · 2023Article
- SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.Journal of neuromuscular diseases · 2023Observational
- Impaired mitochondrial oxidative metabolism in skeletal progenitor cells leads to musculoskeletal disintegration.Nature communications · 2022Article
- Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocrine reviews · 2022Article
- Bone Mineral Density and Current Bone Health Screening Practices in Friedreich's Ataxia.Frontiers in neuroscience · 2022Article
- Dental Pulp-Derived Mesenchymal Stem Cells for Modeling Genetic Disorders.International journal of molecular sciences · 2021Review
- Article
- Overview of Atypical Diabetes.Endocrinology and metabolism clinics of North America · 2020Review
- Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.International journal of molecular sciences · 2020Review
- Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.The Journal of clinical endocrinology and metabolism · 2019Article
- Osteoblastic differentiation improved by bezafibrate-induced mitochondrial biogenesis in deciduous tooth-derived pulp stem cells from a child with Leigh syndrome.Biochemistry and biophysics reports · 2019Article
- Article
- Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.Current genetic medicine reports · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
introductionPrimary mitochondrial disease is caused by either mitochondrial or nuclear DNA mutations that impact the function of the mitochondrial respiratory chain. Individuals with mitochondrial disorders have comorbid conditions that may increase their risk for poor bone health. The objective of this retrospective electronic medical record (EMR) review was to examine risk factors for poor bone health in children and adults with primary mitochondrial disease.
methodsEighty individuals with confirmed clinical and genetic diagnoses of primary mitochondrial disease at the Children's Hospital of Philadelphia (CHOP) were included in this study. Risk factors and bone health outcomes were collected systematically, including: anthropometrics (low BMI), risk-conferring co-morbidities and medications, vitamin D status, nutrition, immobility, fracture history, and, where available, dual energy x-ray absorptiometry (DXA) bone mineral density (BMD) results.
resultsOf patients 73% (n = 58) had at least one risk factor and 30% (n = 24) had four or more risk factors for poor bone health. The median number of risk factors per participant was 2, with an interquartile interval (IQI 0-4). In the subset of the cohort who were known to have sustained any lifetime fracture (n = 11), a total of 16 fractures were reported, six of which were fragility fractures, indicative of a clinically significant decrease in bone strength.
conclusionsThe prevalence of risk factors for poor bone health in primary mitochondrial disease is high. As part of supportive care, practitioners should address modifiable risk factors to optimize bone health, and have a low threshold to evaluate clinical symptoms that could suggest occult fragility fracture.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.