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.
* * * * * * * * EMBARGO: MONDAY, 30 October, 5 P.M. PDT * * * * * * * * *
PLEASE MENTION THE OPEN-ACCESS JOURNAL PLoS MEDICINE (www.plosmedicine.org) AS THE SOURCE FOR THESE ARTICLES AND PROVIDE A LINK TO THE FREELY-AVAILABLE TEXT. THANK YOU.
All works published in PLoS Medicine are open access. Everything is immediately available without cost to anyone, anywhere--to read, download, redistribute, include in databases, and otherwise use--subject only to the condition that the original authorship is properly attributed. Copyright is retained by the authors. The Public Library of Science uses the Creative Commons Attribution License.
Citation: Venables JP, Strain L, Routledge D, Bourn D, Powell HM, et al. (2006) Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med 3(10): e431
PLEASE ADD THE LINK TO THE PUBLISHED ARTICLE IN ONLINE VERSIONS OF YOUR REPORT: http://dx.doi.org/10.1371/journal.pmed.0030431
PRESS-ONLY PREVIEW OF THE ARTICLE: http://www.plos.org/press/plme-03-10-goodship.pdf
CONTACTS:
Tim Goodship
University of Newcastle upon Tyne
Institute of Human Genetics
Central Parkway
Newcastle upon Tyne, NE1 3BZ United Kingdom
+44 191 241 8632
+44 191 241 8666 (fax)
t.h.j.goodship@ncl.ac.uk
Related PLoS Medicine Perspectives article:
Citation: Noris M, Remuzzi R (2006) Complement factor H gene abnormalities in haemolytic uraemic syndrome: From point mutations to hybrid gene. PLoS Med 3(10): e432.
PLEASE ADD THE LINK TO THE PUBLISHED ARTICLE IN ONLINE
VERSIONS OF YOUR REPORT: http://dx.doi.org/10.1371/journal.pmed.0030432
PRESS-ONLY PREVIEW OF THE ARTICLE: http://www.plos.org/press/plme-03-10-remuzzi.pdf
CONTACT:
Giuseppe Remuzzi
Instituto Mario Negri
Via Eritrea,
62 20157 Milano, Italy +39 035 319888 gremuzzi@marionegri.it
About PLoS Medicine
PLoS Medicine is an open access, freely available international medical journal. It publishes original research that enhances our understanding of human health and disease, together with commentary and analysis of important global health issues. For more information, visit http://www.plosmedicine.org
About the Public Library of Science
The Public Library of Science (PLoS) is a non-profit organization of scientists and physicians committed to making the world's scientific and medical literature a freely available public resource. For more information, visit http://www.plos.org
Journal
PLoS Medicine