People with this disease have a mutated form of the protein CYLD. Nijman and his colleagues used genetic screens to discover the molecular mechanism underlying cylindromatosis. Nijman's research revealed that the CYLD protein plays an important role in the NF-kappa B signalling route. This is a cellular communications system which becomes overactive if the CYLD protein is mutated. This results in increased cell growth and the occurrence of tumours.
An important implication of this research is that inhibition of the NF-kappa B route in cylindromatosis patients could be an adequate form of treatment. Aspirin is a well-known inhibitor of this route and a clinical study into the effectiveness of aspirin ointment in the treatment of cylindromatosis is currently being carried out at the Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital.
Fanconi anaemia
The researcher also investigated another form of inherited cancer, Fanconi anaemia. People with this disease develop many highly malignant tumours at a young age, because the cell repair system is incapble of detaching two linked DNA strands.
FANCD2 is a protein responsible for the repair of this DNA damage. The protein is linked to a second protein, ubiquitin, when the cell detects that DNA damage has occurred. Nijman identified a third protein, USP1, which detaches the FANCD2 from the ubiquitin. USP1 therefore plays a role in the repair of DNA damage and possibly in the development of cancer.
Sebastian Nijman's research was partially funded by NWO.
Source: NWO (Netherlands Organization for Scientific Research)
Related stories:
Researchers solve piece of large-scale gene silencing mystery
A team led by Craig Pikaard, Ph.D., WUSTL professor of biology in Arts & Sciences, has made a breakthrough in understanding the phenomenon of nucleolar dominance, the silencing of an entire parental set of ribosomal RNA genes in a hybrid plant or animal.
Structure of a virulent pathogen revealed
(PhysOrg.com) -- Like high-profile politicians, pathogenic bacteria dispatch advance teams to make way for their arrival. But these bacterial agents don’t just secure a safe passage, as a Secret Service detail might do. Rather they are teams of molecules that bacteria inject into cells they want to colonize, sent to hijack their hosts’ biochemistry to serve their master’s microbial needs. These molecules — called virulence factors — co-opt essential cell functions including the reproduction cycle and cell structure assembly, suppressing the cells’ defenses against bacterial invasion and causing disease.
Research on understanding DNA segregation earns top award for young life scientists
For his research of DNA segregation, assembly and regulation of bacterial actin-like proteins, and cytoskeleton, Ethan Clark Garner, a regional winner from North America, has been named the Grand Prize winner for the GE &
Science Prize for Young Life Scientists. The competition, which includes a grand-prize award of $25,000, is supported by GE Healthcare and the journal
Science, which is published by AAAS, the nonprofit science society.
Researchers find new genetic target for sickle cell disease therapy
Researchers have identified a gene that directly affects the production of a form of hemoglobin that is instrumental in modifying the severity of the inherited blood disorders sickle cell disease and thalassemia. The discovery could lead to breakthrough therapies for sickle cell disease and thalassemia, which could potentially eliminate the devastating and life-threatening complications of these diseases, such as severe pain, damage to the eyes and other organs, infections, and stroke.
Bone marrow-derived stem cells may offer novel therapeutic option for skin disorder
Stem cells derived from bone marrow may serve as a novel therapeutic option to treat a disease called epidermolysis bullosa (EB), a disorder characterized by extraordinarily fragile skin, according to a study prepublished online in
Blood, the official journal of the American Society of Hematology.
Crystallography reveals the 3-D structure of mammalian sperm receptor
Scientists at the Swedish medical university Karolinska Institutet have determined the first 3D structure of ZP3, a protein essential for the interaction between the mammalian egg coat and sperm. The findings, presented in
Nature, gives a first glimpse into the molecular architecture of animal egg coats, with important implications for the future of human reproductive medicine and the possibility of developing novel contraceptives.
Researchers discover new enzyme in cancer growth
While studying the mechanics of blood clots, researchers at the University of Oklahoma Health Sciences Center discovered a new enzyme that not only affects the blood, but seems to play a primary role in how cancer tumors expand and spread throughout the body. The research appeared in recent issues of the journal
Blood and the
Journal of Thrombosis and Haemostasis.
Surprise discovery made in cancer research
One of the defining characteristics of cancer cells is that they systematically prevent programmed cell death (apoptosis), with which the body guards itself against the proliferation of defective cells. In order to do this, they express so-called apoptosis inhibitors (IAPs) among other proteins.