TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning

References

• Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, et al. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet 2016; 98:347–23.
   PubMed Web of Science ®Google Scholar
• Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Kupper C, et al. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. Am J Hum Genet 2016; 98:358–62.
   PubMed Web of Science ®Google Scholar
• Cervellin G, Comelli I, Lippi G. Rhabdomyolysis: historical background, clinical, diagnostic and therapeutic features. Clin Chem Lab Med 2010; 48:749–56.
   PubMed Web of Science ®Google Scholar
• Torres PA, Helmstetter JA, Kaye AM, Kaye AD. Rhabdomyolysis: pathogenesis, diagnosis, and treatment. Ochsner J 2015; 15:58–69.
   PubMed Web of Science ®Google Scholar
• Berat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, et al. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. J Inherit Metab Dis 2020.
   Google Scholar
• Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintron DL, McWalter K, et al. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. Genet Med 2019; 21:601–7.
   PubMed Web of Science ®Google Scholar
• Jennions E, Hedberg-Oldfors C, Berglund AK, Kollberg G, Tornhage CJ, Eklund EA, et al. TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism. J Inherit Metab Dis 2019; 42:898–908.
   PubMed Web of Science ®Google Scholar
• Meisner JK, Ames EG, Ahmad A, Si MS, Schumacher KR, Lim HM, et al. Heart Transplantation for TANGO2- Related Metabolic Encephalopathy and Arrhythmia (TRMEA) Syndrome Associated Cardiomyopathy. Circ Genom Precis Med 2020.
   PubMed Web of Science ®Google Scholar
• Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O’Grady G, et al. Clinical presentation and proteomic signature of patients with TANGO2 mutations. J Inherit Metab Dis 2020; 43:297–308.
   PubMed Web of Science ®Google Scholar
• Scuotto F, Silva Jardim MF, Piazzon FB, Marcos de Moraes Albertini C, Assad RS, Fenelon G, et al. Electrical storm treated successfully in a patient with TANGO2 gene mutation and long QT syndrome: A case report. HeartRhythm Case Rep 2020; 6:256–60.
   PubMedGoogle Scholar
• Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck K, Tosur M, et al. Natural History of TANGO2 Deficiency Disorder: Baseline Assessment of 73 Patients. Genet Med 2022.
   Web of Science ®Google Scholar
• Yokoi K, Nakajima Y, Takahashi Y, Hamajima T, Tajima G, Saito K, et al. Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report. JIMD Rep 2023; 64:3–9.
   PubMedGoogle Scholar
• Asadi P, Milev MP, Saint-Dic D, Gamberi C, Sacher M. Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells. J Inherit Metab Dis 2022.
   PubMed Web of Science ®Google Scholar
• Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, et al. 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. J Inherit Metab Dis 2020.
   PubMed Web of Science ®Google Scholar
• Kim ES, Casey JG, Tao BS, Mansur A, Mathiyalagan N, Wallace ED, et al. Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2. Dis Model Mech 2023; 16.
   Web of Science ®Google Scholar
• Sun F, Zhao Z, Willoughby MM, Shen S, Zhou Y, Shao Y, et al. HRG-9 homologues regulate haem trafficking from haem-enriched compartments. Nature 2022; 610:768–74.
   PubMed Web of Science ®Google Scholar
• Heiman P, Mohsen AW, Karunanidhi A, St Croix C, Watkins S, Koppes E, et al. Mitochondrial dysfunction associated with TANGO2 deficiency. Sci Rep 2022; 12:3045.
   PubMed Web of Science ®Google Scholar
• Maynard TM, Meechan DW, Dudevoir ML, Gopalakrishna D, Peters AZ, Heindel CC, et al. Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes. Mol Cell Neurosci 2008; 39:439–51.
   PubMed Web of Science ®Google Scholar
• Lujan AL, Foresti O, Sugden C, Brouwers N, Farre AM, Vignoli A, et al. Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism. Elife 2023; 12.
   Web of Science ®Google Scholar
• Sandkuhler SE, Zhang L, Meisner JK, Ghaloul-Gonzalez L, Beach CM, Harris D, et al. B-complex vitamins for patients with TANGO2-deficiency disorder. J Inherit Metab Dis 2022.
   PubMed Web of Science ®Google Scholar
• Miyake CY, Ehsan SA, Zhang L, Mackenzie SJ, Azamian MS, Scott DA, et al. Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study. Am J Med Genet A 2023.
   Web of Science ®Google Scholar
• Yilmaz-Gumus E, Elcioglu NH, Genc E, Arici S, Ozturk G, Yapici O, et al. Management of acute metabolic crisis in TANGO2 deficiency: a case report. J Pediatr Endocrinol Metab 2023.
   PubMed Web of Science ®Google Scholar
• Dessein AF, Fontaine M, Dobbelaere D, Mention-Mulliez K, Martin-Ponthieu A, Briand G, et al. Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders. Clin Chim Acta 2009; 406:23–6.
   PubMed Web of Science ®Google Scholar
• Gibbs EM, Horstick EJ, Dowling JJ. Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies. FEBS J 2013; 280:4187–97.
   PubMed Web of Science ®Google Scholar
• Li M, Hromowyk KJ, Amacher SL, Currie PD. Muscular dystrophy modeling in zebrafish. Methods Cell Biol 2017; 138:347–80.
   PubMed Web of Science ®Google Scholar
• Guyon JR, Steffen LS, Howell MH, Pusack TJ, Lawrence C, Kunkel LM. Modeling human muscle disease in zebrafish. Biochim Biophys Acta 2007; 1772:205–15.
   PubMed Web of Science ®Google Scholar
• Mathai BJ, Meijer AH, Simonsen A. Studying Autophagy in Zebrafish. Cells 2017; 6.
   PubMed Web of Science ®Google Scholar
• Kaizuka T, Morishita H, Hama Y, Tsukamoto S, Matsui T, Toyota Y, et al. An Autophagic Flux Probe that Releases an Internal Control. Mol Cell 2016; 64:835–49.
   PubMed Web of Science ®Google Scholar
• Moss JJ, Hammond CL, Lane JD. Zebrafish as a model to study autophagy and its role in skeletal development and disease. Histochem Cell Biol 2020; 154:549–64.
   PubMed Web of Science ®Google Scholar
• Kawahara G, Maeda H, Kikura-Hanajiri R, Yoshida KI, Hayashi YK. The psychoactive drug 25B-NBOMe recapitulates rhabdomyolysis in zebrafish larvae. Forensic Toxicol 2017; 35:369–75.
   PubMed Web of Science ®Google Scholar
• Pasha R, Moon TW. Coenzyme Q10 protects against statin-induced myotoxicity in zebrafish larvae (Danio rerio). Environ Toxicol Pharmacol 2017; 52:150–60.
   PubMed Web of Science ®Google Scholar
• Sztal TE, Ruparelia AA, Williams C, Bryson-Richardson RJ. Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish. J Vis Exp 2016.
   PubMed Web of Science ®Google Scholar
• Kiage J, Venkatanarayan A, Roth M, Elam M. Atorvastatin-associated rhabdomyolysis in a patient with a novel variant of the SLCO1B1 gene: A case report. J Clin Lipidol 2022; 16:23–7.
   PubMed Web of Science ®Google Scholar
• McWilliams TG, Prescott AR, Allen GF, Tamjar J, Munson MJ, Thomson C, et al. mito-QC illuminates mitophagy and mitochondrial architecture in vivo. J Cell Biol 2016; 214:333–45.
   PubMed Web of Science ®Google Scholar
• Yang RM, Tao J, Zhan M, Yuan H, Wang HH, Chen SJ, et al. TAMM41 is required for heart valve differentiation via regulation of PINK-PARK2 dependent mitophagy. Cell Death Differ 2019; 26:2430–46.
   PubMed Web of Science ®Google Scholar
• He C, Bartholomew CR, Zhou W, Klionsky DJ. Assaying autophagic activity in transgenic GFP-Lc3 and GFP-Gabarap zebrafish embryos. Autophagy 2009; 5:520–6.
   PubMed Web of Science ®Google Scholar
• Watchon M, Yuan KC, Mackovski N, Svahn AJ, Cole NJ, Goldsbury C, et al. Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy. J Neurosci 2017; 37:7782–94.
   PubMed Web of Science ®Google Scholar
• Xia HG, Zhang L, Chen G, Zhang T, Liu J, Jin M, et al. Control of basal autophagy by calpain1 mediated cleavage of ATG5. Autophagy 2010; 6:61–6.
   PubMed Web of Science ®Google Scholar
• Yousefi S, Perozzo R, Schmid I, Ziemiecki A, Schaffner T, Scapozza L, et al. Calpain-mediated cleavage of Atg5 switches autophagy to apoptosis. Nat Cell Biol 2006; 8:1124–32.
   PubMed Web of Science ®Google Scholar
• Jokl EJ, Blanco G. Disrupted autophagy undermines skeletal muscle adaptation and integrity. Mamm Genome 2016; 27:525–37.
   PubMed Web of Science ®Google Scholar
• Masiero E, Agatea L, Mammucari C, Blaauw B, Loro E, Komatsu M, et al. Autophagy is required to maintain muscle mass. Cell Metab 2009; 10:507–15.
   PubMed Web of Science ®Google Scholar
• Masiero E, Sandri M. Autophagy inhibition induces atrophy and myopathy in adult skeletal muscles. Autophagy 2010; 6:307–9.
   PubMed Web of Science ®Google Scholar
• Castets P, Frank S, Sinnreich M, Ruegg MA. “Get the Balance Right”: Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders. J Neuromuscul Dis 2016; 3:127–55.
   PubMedGoogle Scholar
• Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Bertaggia E, et al. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 2010; 16:1313–20.
   PubMed Web of Science ®Google Scholar
• Xia Q, Huang X, Huang J, Zheng Y, March ME, Li J, et al. The Role of Autophagy in Skeletal Muscle Diseases. Front Physiol 2021; 12:638983.
   PubMed Web of Science ®Google Scholar
• Hamel Y, Mauvais FX, Madrange M, Renard P, Lebreton C, Nemazanyy I, et al. Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis. Cell Rep Med 2021; 2:100370.
   PubMedGoogle Scholar
• Byrne S, Jansen L, JM UK-I, Siddiqui A, Lidov HG, Bodi I, et al. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016; 139:765–81.
   PubMed Web of Science ®Google Scholar
• Suliman I, Batarfi A, Almohammadi H, Aljeraisi H, Alnaserallah H, Alghamdi A. Prevalence of Self-Reported Muscle Pain Among Statin Users From National Guard Hospital, Riyadh. Cureus 2022; 14:e23463.
   Web of Science ®Google Scholar
• Al-Habsi AA, Massarsky A, Moon TW. Exposure to gemfibrozil and atorvastatin affects cholesterol metabolism and steroid production in zebrafish (Danio rerio). Comp Biochem Physiol B Biochem Mol Biol 2016; 199:87–96.
   PubMed Web of Science ®Google Scholar
• Li B, Zeng Y, Jiang L. COPII vesicles in plant autophagy and endomembrane trafficking. FEBS Lett 2022; 596:2314–23.
   PubMed Web of Science ®Google Scholar
• Zeng Y, Li B, Ji C, Feng L, Niu F, Deng C, et al. A unique AtSar1D-AtRabD2a nexus modulates autophagosome biogenesis in Arabidopsis thaliana. Proc Natl Acad Sci U S A 2021; 118.
   Web of Science ®Google Scholar
• Graef M, Friedman JR, Graham C, Babu M, Nunnari J. ER exit sites are physical and functional core autophagosome biogenesis components. Mol Biol Cell 2013; 24:2918–31.
   PubMed Web of Science ®Google Scholar
• Tan D, Cai Y, Wang J, Zhang J, Menon S, Chou HT, et al. The EM structure of the TRAPPIII complex leads to the identification of a requirement for COPII vesicles on the macroautophagy pathway. Proc Natl Acad Sci U S A 2013; 110:19432–7.
   PubMed Web of Science ®Google Scholar
• Ge L, Zhang M, Schekman R. Phosphatidylinositol 3-kinase and COPII generate LC3 lipidation vesicles from the ER-Golgi intermediate compartment. Elife 2014; 3:e04135.
   PubMed Web of Science ®Google Scholar
• Shima T, Kirisako H, Nakatogawa H. COPII vesicles contribute to autophagosomal membranes. J Cell Biol 2019; 218:1503–10.
   PubMed Web of Science ®Google Scholar
• Garcia-Cazorla A, Oyarzabal A, Saudubray JM, Martinelli D, Dionisi-Vici C. Genetic disorders of cellular trafficking. Trends Genet 2022; 38:724–51.
   PubMed Web of Science ®Google Scholar
• Scrivens PJ, Noueihed B, Shahrzad N, Hul S, Brunet S, Sacher M. C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking. Mol Biol Cell 2011; 22:2083–93.
   PubMed Web of Science ®Google Scholar
• Stanga D, Zhao Q, Milev MP, Saint-Dic D, Jimenez-Mallebrera C, Sacher M. TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes. Traffic 2019; 20:325–45.
   PubMed Web of Science ®Google Scholar
• Zhang P, Verity MA, Reue K. Lipin-1 Regulates Autophagy Clearance and Intersects with Statin Drug Effects in Skeletal Muscle. Cell Metab 2014.
   Google Scholar
• Noda T, Matsunaga K, Taguchi-Atarashi N, Yoshimori T. Regulation of membrane biogenesis in autophagy via PI3P dynamics. Semin Cell Dev Biol 2010; 21:671–6.
   PubMed Web of Science ®Google Scholar
• Li L, Tong M, Fu Y, Chen F, Zhang S, Chen H, et al. Lipids and membrane-associated proteins in autophagy. Protein Cell 2021; 12:520–44.
   PubMed Web of Science ®Google Scholar
• Weiyi Xu, Yingqiong Cao, Lorren Cantú, Eleni Nasiotis, Seema R. Lalani, Christina Y. Miyake, Lilei Zhang. TANGO2 deficient iPSC-differentiated cardiomyocyte and dermal fibroblasts have normal mitochondrial OXPHOS function. doi: 10.1101/2022.06.27.497853.
   Google Scholar
• Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, et al. 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. J Inherit Metab Dis 2021; 44:426–37.
   PubMed Web of Science ®Google Scholar
• Schindelin J, Arganda-Carreras I, Frise E, Kaynig V, Longair M, Pietzsch T, et al. Fiji: an open-source platform for biological-image analysis. Nat Methods 2012; 9:676–82.
   PubMed Web of Science ®Google Scholar
• Swaminathan A, Hassan-Abdi R, Renault S, Siekierska A, Riche R, Liao M, et al. Non-canonical mTOR-Independent Role of DEPDC5 in Regulating GABAergic Network Development. Curr Biol 2018; 28:1924–37 e5.
   PubMed Web of Science ®Google Scholar