ArticleThe Journal of clinical endocrinology and metabolism2019
Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.
Article in The Journal of clinical endocrinology and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 26 citations in OpenAlex.
- RTN4IP1 mutation and endocrine failure: clinical features and possible benefits of coenzyme Q10.Endocrine connections · 2026Article
- Nutrient and endocrine factors affecting impaired growth in pediatric mitochondrial diseases.Endocrinology, diabetes & metabolism case reports · 2026Article
- Endocrine Dysfunction in Primary Mitochondrial Diseases.Endocrine reviews · 2025Review
- Metabolic rewiring caused by mitochondrial dysfunction promotes mTORC1-dependent skeletal aging.Science advances · 2025Article
- Clinical features and treatment of stroke-like episodes in mitochondrial disease: a cohort-based study.Journal of neurology · 2024Observational
- DELE1 maintains muscle proteostasis to promote growth and survival in mitochondrial myopathy.The EMBO journal · 2024Article
- DELE1 promotes translation-associated homeostasis, growth, and survival in mitochondrial myopathy.bioRxiv : the preprint server for biology · 2024Article
- Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.Journal of neurology · 2024Article
- Evaluation of the MDM-score system for screening mitochondrial diabetes mellitus in newly diagnosed diabetes patients: a multi-center cohort study in China.Frontiers in endocrinology · 2024Article
- Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging.Psychoneuroendocrinology · 2023Article
- A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt-ND variants.Annals of clinical and translational neurology · 2023Article
- A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.HGG advances · 2023Article
- Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocrine reviews · 2022Article
- Forecasting stroke-like episodes and outcomes in mitochondrial disease.Brain : a journal of neurology · 2022Observational
- Body Mass Index and Height in Friedreich Ataxia: What Do We Know?Neurology. Genetics · 2021Article
- Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study.Neurology. Genetics · 2021Article
- An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.Nature genetics · 2021Article
- The molecular pathology of pathogenic mitochondrial tRNA variants.FEBS letters · 2021Review
- Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.American journal of human genetics · 2021Article
- Association of Body Composition, Physical Functioning, and Protein Intake in Adult Patients With Mitochondrial Diseases.JPEN. Journal of parenteral and enteral nutrition · 2021Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
contextAbnormal growth and short stature are observed in patients with mitochondrial disease, but it is unclear whether there is a relationship between final adult height and disease severity.
objectiveTo determine whether patients with genetically confirmed mitochondrial disease are shorter than their peers and whether stature is related to disease severity.
designAnalysis of final adult height in relation to disease severity as determined by the Newcastle Mitochondrial Disease Adult Scale (NMDAS).
settingUK Mitochondrial Disease Patient Cohort (Mito Cohort). PATIENTS: 575 patients were identified with recorded height, weight, and molecular genetic diagnosis of mitochondrial disease within the Mito Cohort.
main outcome measuresAdult height, body mass index (BMI), and their association with genetic subgroup and disease severity.
resultsAdults with mitochondrial disease were short, with a mean height of -0.49 SD (95% CI, -0.58 to -0.39; n = 575) compared with UK reference data. Patients were overweight, with a BMI SD of 0.52 (95% CI, 0.37 to 0.67; n = 472). The most common genetic subgroup (m.3243A>G mutation) had a height SD of -0.70 (95% CI, -0.85 to -0.54; n = 234) and a BMI SD of 0.12 (95% CI, -0.10 to 0.34; n = 212). NMDAS scores were negatively correlated with height SD (r = -0.25; 95% CI, -0.33 to -0.17; P < 0.001, n = 533). Rate of disease progression also correlated negatively with adult height (P < 0.001).
conclusionFinal height in mitochondrial disease reflects disease severity and rate of disease progression. Mitochondrial dysfunction and associated subclinical comorbidities affect growth plate physiology.
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Registered trials
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