ReviewNature reviews. Endocrinology2017
Mitochondrial disease and endocrine dysfunction.
Review in Nature reviews. Endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
112 citing papers in PubMed, 1 synthesis or guideline pooled it, 202 citations in OpenAlex.
- Clinical and Genetic Characteristics of Mitochondrial DNA Depletion Syndrome Associated with SUCLG1 Variants in China.Physiological research · 2026Pooled it
- Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.The Journal of clinical investigation · 2021Trial
- RMND1 dysfunction causes OXPHOS deficiency and alters mitoribosomal protein homeostasis in vivo.EMBO molecular medicine · 2026Article
- Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood.Kidney international reports · 2026Review
- A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.Nature communications · 2026Article
- Review
- RTN4IP1 mutation and endocrine failure: clinical features and possible benefits of coenzyme Q10.Endocrine connections · 2026Article
- A novel mutation in exon 18 ofThe Journal of international medical research · 2026Article
- Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.American journal of human genetics · 2025Article
- Advancements and perspectives on organelle-targeted fluorescent probes for super-resolution SIM imaging.Chemical science · 2025Review
- DKA in a toddler negative to type 1 diabetes autoantibodies: unusual presentation of Kearn-Sayre syndrome.Acta diabetologica · 2025Article
- Endocrine Abnormalities and Growth Pattern in Single Large-Scale Mitochondrial DNA Deletion Syndromes.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.Orphanet journal of rare diseases · 2025Article
- Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy.JCEM case reports · 2025Article
- Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center ExperienceJournal of clinical research in pediatric endocrinology · 2025Article
- Inter-organelle communication dynamically orchestrates juvenile hormone biosynthesis and female reproduction.National science review · 2025Article
- Exploration of the mechanism and therapy of ovarian aging by targeting cellular senescence.Life medicine · 2025Review
- Review
- Comprehensive analysis of the expression and prognostic value of ARMCs in pancreatic adenocarcinoma.BMC cancer · 2025Article
- Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review.Frontiers in medicine · 2025Article
52 more citing papers are in PubMed but not listed here.
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 2 countries.
Funding
Abstract
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking. Mitochondrial diseases are multisystem disorders that feature defective oxidative phosphorylation, and are characterized by enormous clinical, biochemical and genetic heterogeneity. To date, mitochondrial diseases have been found to result from >250 monogenic defects encoded across two genomes: the nuclear genome and the ancient circular mitochondrial genome located within mitochondria themselves. Endocrine dysfunction is often observed in genetic mitochondrial diseases and reflects decreased intracellular production or extracellular secretion of hormones. Diabetes mellitus is the most frequently described endocrine disturbance in patients with inherited mitochondrial diseases, but other endocrine manifestations in these patients can include growth hormone deficiency, hypogonadism, adrenal dysfunction, hypoparathyroidism and thyroid disease. Although mitochondrial endocrine dysfunction frequently occurs in the context of multisystem disease, some mitochondrial disorders are characterized by isolated endocrine involvement. Furthermore, additional monogenic mitochondrial endocrine diseases are anticipated to be revealed by the application of genome-wide next-generation sequencing approaches in the future. Understanding the mitochondrial basis of endocrine disturbance is key to developing innovative therapies for patients with mitochondrial diseases.
Indexed as
Identifiers
What OpenQuestion holds
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.