The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria
Abstract
TANGO2 variants result in a complex disease phenotype consisting of recurrent crisis-induced rhabdomyolysis, encephalopathy, seizures, lactic acidosis, hypoglycemia, and cardiac arrhythmias. Although first described in a fruit fly model as a protein necessary for some aspect of Golgi function and organization, its role in the cell at a fundamental level has not been addressed. Such studies are necessary to better counsel families regarding treatment options and nutrition management to mitigate the metabolic aspects of the disease. The few studies performed to address the pathway(s) in which TANGO2 functions have led to enigmatic results, with some suggesting defects in membrane traffic while others suggest unknown mitochondrial defects. Here, we have performed a robust membrane trafficking assay on fibroblasts derived from three different individuals harboring TANGO2 variants and show that there is a significant delay in the movement of cargo between the endoplasmic reticulum and the Golgi. Importantly, this delay was attributed to a defect in TANGO2 function. We further show that a portion of TANGO2 protein localizes to the mitochondria through a necessary but not sufficient stretch of amino acids at the amino terminus of the protein. Fibroblasts from affected individuals also displayed changes in mitochondrial morphology. We conclude that TANGO2 functions in both membrane trafficking and in some as yet undetermined role in mitochondria physiology. The phenotype of affected individuals can be partially explained by this dual involvement of the protein.
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No homologs of the C-terminal domain of SLP or any portion of Lrbp could be detected using HHsearch.
“while no homologs of the C-terminal domain of SLP or any portion of Lrbp could be detected using HHsearch (13)”
From Accurate prediction of protein structures and interactions using a 3-track network (2021) · cites this paper as [13]
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- Authors
- Milev, M. P., Saint‐Dic, D., Zardoui, K., Klopstock, T., Law, C., Distelmaier, F., & Sacher, M.
- Affiliations
- Concordia University (CA)
- German Center for Neurodegenerative Diseases (DE)
- Centre for Microscopy and Cellular Imaging Concordia University Quebec Canada
- Heinrich Heine University Düsseldorf (DE)
- McGill University (CA)
- Corresponding author
- Distelmaier, Felix
- Sacher, Michael
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2020-09-21
- Volume
- 44
- Issue
- 2
- Pages
- 426-437
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W3085561812
- Cited by
- 53
- References
- 23
- Citations by year
- 2026: 10 · 2025: 14 · 2024: 6 · 2023: 10 · 2022: 9 · 2021: 4
- FWCI
- 2.87
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- DZNE Pub (submittedVersion)
- Funders
- Bundesministerium für Bildung und Forschung
- Canadian Institutes of Health Research
- Deutsche Forschungsgemeinschaft
- Natural Sciences and Engineering Research Council of Canada
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- TANGO2, ER-Golgi transport, membrane trafficking, mitochondrial localization, mitochondrial morphology, rhabdomyolysis, lactic acidosis, hypoglycemia, cardiac arrhythmias, seizures, encephalopathy, fibroblasts, inborn errors of metabolism
- MeSH terms
- Arrhythmias, Cardiac, Endoplasmic Reticulum, Fibroblasts, Golgi Apparatus, Humans, Mitochondria, Mutation, Pedigree, Phenotype, Rhabdomyolysis, Genetic Predisposition to Disease, Protein Transport, Aryl Hydrocarbon Receptor Nuclear Translocator, Exome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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