Mitochondrial dysfunction associated with TANGO2 deficiency

• Published in: Scientific reports Vol. 12; no. 1; p. 3045
• Main Authors: Heiman, Paige, Mohsen, Al-Walid, Karunanidhi, Anuradha, St Croix, Claudette, Watkins, Simon, Koppes, Erik, Haas, Richard, Vockley, Jerry, Ghaloul-Gonzalez, Lina
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 23.02.2022; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208; 692/308; 692/699; Acidosis; Adolescent; Adult; Aryl Hydrocarbon Receptor Nuclear Translocator - deficiency; Aryl Hydrocarbon Receptor Nuclear Translocator - genetics; Aryl Hydrocarbon Receptor Nuclear Translocator - metabolism; Bioenergetics; Cells, Cultured; Child; Children; Energy metabolism; Fatty Acids - metabolism; Female; Fibroblasts; Fibroblasts - metabolism; Golgi apparatus; Hereditary diseases; Humanities and Social Sciences; Humans; Hyperammonemia; Hypoglycemia; Lactic acidosis; Male; Metabolism; Mitochondria; Mitochondria - genetics; Mitochondria - metabolism; Mitochondria - ultrastructure; Mitochondrial Dynamics; Mitochondrial Proteins - metabolism; multidisciplinary; Mutation; Oxidation; Oxygen consumption; Patients; Protein transport; Rhabdomyolysis; Science; Science (multidisciplinary)

Transport and Golgi Organization protein 2 Homolog ( TANGO2 )-related disease is an autosomal recessive disorder caused by mutations in the TANGO2 gene. Symptoms typically manifest in early childhood and include developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias, al...