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New mutation that causes atypical hemolytic uremic syndrome identified

October 31, 2006

Researchers from the University of Newcastle, UK, have identified a novel genetic change that causes one form of atypical hemolytic uremic syndrome (aHUS) a rare, chronic disease that causes kidney failure and which can run in families.

Previous work has shown the involvement in this syndrome of a protein called "factor H," one of a number of proteins produced in the liver, which are involved in the control of the complement system-one of the systems that controls the body's defenses against infection.

The researchers, led by Tim Goodship, studied one family, several of whose members had aHUS but with no previously identified mutation. They identified a hybrid gene which codes for a protein product identical to one previously described in association with aHUS.

The mutation these researchers identified is likely to result in development of aHUS that does not get better after a kidney transplant, because the abnormal factor H would still be produced in the liver after a transplant had been done. The researchers suggest that patients with aHUS be checked for this particular mutation before it is decided whether to go ahead with a transplant.

A related perspective by Giuseppe Remuzzi and Marina Noris from the Instituto Mario Negri, further discusses the implications of this finding.

Public Library of Science