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Genetic Cause Discovered for Systemic Lupus Erythematosus

Mutations in a gene researchers call TREX1 is one cause for systemic lupus erythematosus (SLE), a severe and incurable autoimmune disease. This is the result of a new study headed by Professor Norbert Hübner from the Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch and Dr. Min Ae Lee-Kirsch from the Technical University Dresden, (both in Germany) in collaboration with scientists from Finland, Sweden, the United Kingdom, and the USA. The study has now been published in the latest issue of Nature Genetics (Vol. 39, No. 9, pp. 1065-1067, 2007).

The exact causes for SLE are still unknown. Triggers are thought to include viruses, the sunlight, drug reactions, or a specific genetic predisposition. Symptoms of SLE can be inflammations of the skin, the joints, the heart, the lungs, the kidney, and the nervous system. The name of the disease refers to red spots on the skin which resemble the bites of a wolfe (latin: lupus). As the disease can affect any part of the body, it is "systemic". SLE belongs to the group of autoimmune diseases, because the body's immune system attacks its own healthy cells and tissues, causing inflammations. About 40,000 individuals are affected in Germany, most of them are women.

In a family suffering from a rare form of lupus, Dr. Lee-Kirsch and Professor Hübner discovered various mutations in the gene TREX1. Hence, they wanted to know if mutations in TREX1 also play a role in SLE, the most common form of lupus. Collecting blood samples from patients with SLE from the UK, Germany, and Finland, the researcher compared them with samples from healthy individuals. As suspected, patients with SLE carried mutations in the TREX1 gene whereas healthy individuals did not. Nevertheless, the mutations found in TREX1 are not responsible for all types of SLE.

The product of the gene TREX1 is a protein which plays a role in apoptosis, a program in which cells literally induce their own death when defective. Thus, apoptosis protects the body from harm. Once apoptosis starts, TREX1 gets rid of its junctions in the cytoplasm and translocates into the nucleus of a damaged cell to digest its DNA.

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Mutations in TREX1, however, change part of the protein with which it is chained to the cell's cytoplasm. In the case of apoptosis, TREX1 gets rid of its molecular chains, translocates into the cell's nucleus, and spreads to other parts of the cell too. The immune system seems to be mislead as it produces autoantibodies against these cell particles and also against other healthy cells. Why autoantibodies are produced still remains unclear. "Further studies will have to shed light onto this problem", stresses Professor Hübner.

*Mutations in the 3´-5´ DNA exonuclease TREX1 are associated with systemic lupus erythematosus

Min Ae Lee-Kirsch1, Maolian Gong2#, Dipanjan Chowdhury3#, Lydia Senenko1#, Kerstin Engel1#, Young-Ae Lee2,4#, Udesh de Silva5, Suzanna L. Bailey5, Torsten Witte6, Timothy J. Vyse7, Juha Kere8, Christiane Pfeiffer9, Scott Harvey10, Andrew Wong7, Sari Koskenmies11,12, Oliver Hummel2, Klaus Rohde2, Reinhold E. Schmidt6, Anna F. Dominiczak13, Manfred Gahr1, Thomas Hollis5, Fred W. Perrino10, Judy Lieberman3, & Norbert Hübner2

1Klinik für Kinder- und Jugendmedizin, Technische Universität Dresden, 01307 Dresden, Germany
2Max-Delbrück-Center for Molecular Medicine (MDC), Berlin-Buch, Germany
3CBR Institute for Biomedical Research, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 01225, USA
4Charité - Universitätsmedizin Berlin, Pediatric Pneumology and Immunology, Campus Virchow-Klinikum, 13553 Berlin, Germany
5Center for Structural Biology, Department of Biochemistry, Wake Forest University Health Sciences, Winston-Salem, NC 27157, USA
6Medizinische Hochschule Hannover, Klinische Immunologie, 30625 Hannover, Germany
7Imperial College, Faculty of Medicine, Section of Rheumatology and Molecular Genetics, Hammersmith Hospital, London W12 0NN, UK.
8Karolinska Institute, Department of Biosciences and Nutrition, and Clinical Research Centre, 14157 Huddinge, Sweden
9Klinik für Dermatologie, Technische Universität Dresden, 01307 Dresden, Germany
10Department of Biochemistry, Wake Forest University Health Sciences, Winston-Salem, NC 27157, USA
11University of Helsinki, Department of Medical Genetics and 12Department of Dermatology, 00014 Helsinki, Finland
13Department of Medicine and Therapeutics, Western Infirmary, Glasgow University, Glasgow G11 6NT, UK

#These authors contributed equally.

Correspondence requests should be addressed to M. L.-K. ( and N. H. (

Barbara Bachtler
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Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch
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Barbara Bachtler | idw
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Further reports about: Genetic Lupus SLE TREX1 apoptosis mutations

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