What is it about?
We delineate a new hereditary form of Hemolytic-Uremic Syndrome (HUS) caused by mutation in C1GALT1C1, encoding a T-synthase chaperone essential for the proper formation and incorporation of the T antigen on erythrocytes., Our findings suggest that both this atypical HUS caused by mutated C1GALT1C1 and the prevalent HUS (mostly secondary to infectious diseases,) are mediated by the lectin-complement-pathway. We thus delineate a shared molecular basis of this atypical HUS and the common HUS, highlighting possible therapeutic opportunities.
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Why is it important?
Hemolytic-uremic syndrome (HUS), mostly secondary to infectious diseases, is a common cause of acute kidney injury in children. Discovery of a novel molecular pathway of this disease opens possible therapeutic opportunities.
Perspectives
Hemolytic-uremic syndrome (HUS), mostly secondary to infectious diseases, is a common cause of acute kidney injury in children. Through studies of a unique monogenic case, Noam Hadar of our lab elucidated a novel genetic form of the disease, unraveling novel molecular pathways of the common disease - opening new venues to its treatment.
Ohad Birk
Soroka Medical Center and Ben Gurion University
Read the Original
This page is a summary of: X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome, European Journal of Human Genetics, January 2023, Springer Science + Business Media, DOI: 10.1038/s41431-022-01278-5.
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