ArticleThe Journal of clinical investigation2019
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.
Article in The Journal of clinical investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06959251 (A Randomized, Placebo-controlled Clinical Trial Evaluating the Efficacy and Safety of Glycine and Magnesium+Thiamine Supplements, Alone or Combined, Administered for 6 Months to Patients With Primary Ciliary Dyskinesia), which is not on this map. Cited by 41 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.
A Randomized, Placebo-controlled Clinical Trial Evaluating the Efficacy and Safety of Glycine and Magnesium+Thiamine Supplements, Alone or Combined, Administered for 6 Months to Patients With Primary Ciliary Dyskinesia
Who cites it
41 citing papers in PubMed, 60 citations in OpenAlex.
- Trial
- MiR-145-5p modulates collagen production and fibroblast behaviour after cardiac injury partially via COL5A1.Basic research in cardiology · 2026Article
- Article
- Patient-informed CRISPR screen identifies FLNB as a congenital heart disease and ciliopathy gene.HGG advances · 2026Article
- Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.Clinical journal of the American Society of Nephrology : CJASN · 2026Article
- Broadening horizons: new links between cilia and heart development and disease.Frontiers in cardiovascular medicine · 2026Review
- Emerging roles of the ciliary-mitochondrial axis in cellular homeostasis and neuroprotection.Molecular neurodegeneration advances · 2025Article
- Article
- Brain lateralization for perceiving direction of motion is reversed in Williams syndrome and related to BUD23.Scientific reports · 2025Article
- Mitochondrial Dysfunction in Congenital Heart Disease.Journal of cardiovascular development and disease · 2025Review
- TAp73 regulates mitochondrial dynamics and multiciliated cell homeostasis through an OPA1 axis.Cell death & disease · 2024Article
- Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.The Journal of clinical investigation · 2024Article
- Emissions from plastic incineration induce inflammation, oxidative stress, and impaired bioenergetics in primary human respiratory epithelial cells.Toxicological sciences : an official journal of the Society of Toxicology · 2024Article
- The Mitochondrial Connection: The Nek Kinases' New Functional Axis in Mitochondrial Homeostasis.Cells · 2024Review
- Redox Imbalance in Nasal Epithelial Cells of Primary Ciliary Dyskinesia Patients.Antioxidants (Basel, Switzerland) · 2024Article
- Functions of cilia in cardiac development and disease.Annals of human genetics · 2024Review
- Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1.iScience · 2023Article
- Esrrγa regulates nephron and ciliary development by controlling prostaglandin synthesis.Development (Cambridge, England) · 2023Article
- Mitochondrial respiratory quiescence: A new model for examining the role of mitochondrial metabolism in development.Seminars in cell & developmental biology · 2023Review
- Mitochondrial dysfunction compromises ciliary homeostasis in astrocytes.The Journal of cell biology · 2023Article
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Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
Abstract
About 1% of all newborns are affected by congenital heart disease (CHD). Recent findings identify aberrantly functioning cilia as a possible source for CHD. Faulty cilia also prevent the development of proper left-right asymmetry and cause heterotaxy, the incorrect placement of visceral organs. Intriguingly, signaling cascades such as mTor that influence mitochondrial biogenesis also affect ciliogenesis, and can cause heterotaxy-like phenotypes in zebrafish. Here, we identify levels of mitochondrial function as a determinant for ciliogenesis and a cause for heterotaxy. We detected reduced mitochondrial DNA content in biopsies of heterotaxy patients. Manipulation of mitochondrial function revealed a reciprocal influence on ciliogenesis and affected cilia-dependent processes in zebrafish, human fibroblasts and Tetrahymena thermophila. Exome analysis of heterotaxy patients revealed an increased burden of rare damaging variants in mitochondria-associated genes as compared to 1000 Genome controls. Knockdown of such candidate genes caused cilia elongation and ciliopathy-like phenotypes in zebrafish, which could not be rescued by RNA encoding damaging rare variants identified in heterotaxy patients. Our findings suggest that ciliogenesis is coupled to the abundance and function of mitochondria. Our data further reveal disturbed mitochondrial function as an underlying cause for heterotaxy-linked CHD and provide a mechanism for unexplained phenotypes of mitochondrial disease.
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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.