Study Unveils Fat Transport Deficiency as Key Factor in Rare Childhood Metabolic Crises
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Researchers studying a protein linked to a rare, severe disease have made a discovery that sheds light on how cells meet their energy needs during a severe metabolic crisis. The findings could lead to new treatments for the disease and open new avenues of research for other conditions involving impaired fat metabolism.
Scientists at the Centre for Genomic Regulation (CRG) in Barcelona first identified a handful of protein-coding genes called TANGO in 2006. In 2016, the researchers found that mutations in TANGO2 causes a rare disease now officially recognised as TANGO2 Deficiency Disorder (TDD).
In the latest study, published in the Journal of Cell Biology, the researchers demonstrate that TANGO2 directly binds to a key fat molecule called acyl-CoA, transporting them like a shuttle inside cells. The authors of the study made the findings by tagging TANGO2 with glowing markers to trace its movements in live cells.
“Families sometimes only find out their child has TANGO2 deficiency only after a dramatic incident,” says ICREA Research Professor Vivek Malhotra, senior author of the study who first discovered the TANGO family of genes two decades ago. “One moment, everything seems normal. Then, under an energy-demanding situation, these children’s muscles and hearts fail to keep up.”
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