A research team from Israel discovered that the gene mutation of STN1 which maintains the end chromosome telomere structure would cause a rare genetic disease Coats plus syndrome. The study "Coats plus syndrome caused by STN1 gene mutations is related to telomere defects of gene and chromosome" was published in the online edition of Experimental Medicine on July 18th. The journal also published some other studies related to recombinant proteins.
Coats plus syndrome can affect many body tissues including the eyes, brain, bone marrow and gastrointestinal tract. The disease is caused by gene mutations in encoding CTC1 protein. CTC1 is a protein which protects telomeric end of chromosomes structure. If the function of telosomes goes wrong, then the cell can't divide and chromosomes would fuse together.
Gideon Rechavi from Sheba Medical Center and Raz Somech from Sarah selig Maimonides Medical Health and Institute of Raz Somech led the study. They also like to conduct experiments on recombinant proteins such as recombinant mouse proteins and recombinant rat proteins. The researchers identified two Pakistan Coat plus syndrome patients without CTC1 gene mutations. Instead, STN1 genes of patients mutated. STN1 is a protein structure which maintains telomere with CTC1 and TEN1 together. The telomere function of cells isolated from a patient's body cell went wrong and the dividing ability of cells reduced.
In order to verify that STN1 mutation causes Coats plus syndrome, researchers together with David Wiest from the US Fox chase cancer center conducted gene knock-out experiments on zebrafish. Genetically-engineered zebrafish formed Coats plus syndrome-like symptoms by modeling, including a lack of red blood cells and blood vessels to dilate and broke. The latter symptoms can correct by thalidomide, and thalidomide is an effective anti-angiogenic agent.
The researchers said in the two subjects, one of whom died of a gastrointestinal hemorrhage. However, they can make use of thalidomide to partly relieve the gastrointestinal bleeding in the second patient, establishing a successful "from clinical - basic - clinical" paradigm. The researchers are planning to explore how STN1 mutations cause patient's symptoms. In addition to maintaining normal structure and function of telomeres, CTC1-STN1-TNE1 protein complex also plays an important role in the DNA replication process in the whole genome. This process also has defect in patients’ cells. "What features the defects of telomere or all gene replication have or the role it has on the defects which have nothing to do with DNA replication have not been elucidated." The researchers said. Flarebio is a National High-Tech Enterprise with research, production and sales as one. It offers recombinant proteins (including recombinant cdh1) and antibodies and many other related products at a reasonable price.
