What is TANGO2 and TANGO2 Disease?
TANGO2 itself is a protein coding gene on chromosome 22 (22q11.21). This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum.
TANGO2-related metabolic encephalopathy and arrhythmias is referred to as “metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration” (MECRCN) in OMIM. Identification of TANGO2 as a gene related to human disease is a relatively recent discovery – the initial two journal articles listed below were published in February 2016.
Although there are some common symptoms and conditions across those affected by TANGO2 disease, there is also broad variability in terms of presentation and severity of them for each individual. In all cases though, the potential for rhabdomyolysis and life-threatening cardiac arrhythmia brought on by metabolic crisis is always there.