Genetic experts from Turkish and US universities, leading to intellectual disability and autism spectrum “CC2D1A” proved that differences in the gene cause different diseases. 4 in a year-long study, Frog embryos with deleted CC2D1A gene, which causes intellectual disability and autism spectrum, have right-sided hearts, Cysts in the kidneys and flow abnormalities in the cerebrospinal fluid were observed.. BUU Faculty of Medicine, Head of Medical Genetics Department, Prof.. Dr. Let's Laugh at My Şehime Temel, “Genie ‘silya genie’ We defined it in the literature as. We are the first to describe this in the literature.” he said.
Consanguineous couple, 2020 Bursa Uludağ University with a complaint about behavioral disorders of two of his children. (BUÜ) applied to the hospital.In the examinations carried out at the hospital, the siblings, He was diagnosed with non-syndromic intellectual disability and mild autism spectrum disorder caused by the CC2D1A gene.. A protocol was signed with Yale University to further examine the relationship of the CC2D1A gene with different diseases..Abdullah Gül, conducted by BUU and Yale University of the USA, Academicians from Çanakkale Onsekiz Mart and Istanbul Medeniyet universities, The working group called MarmaRare Group and the Cyprus Near East University Hospital Genetic Diagnosis Center were also included. 20 personality research team, about on the gene 4 He conducted scientific research for years. The CC2D1A gene was disabled in the frog's embryos and it was determined that the animal's heart was on the right instead of the left.. Moreover, Cysts and cerebrospinal fluid flow abnormalities were observed in the embryo's kidneys..Scientific studies have shown that the CC2D1A gene variant is not only associated with intellectual disability and autism spectrum., It has been revealed that it may cause organ development and system disorders. Scientists, modeling the pathophysiology of diseases (branch of science that studies the causes of disease) to be revealed, continues its work to develop new strategies in diagnosis and treatment.In this context, The aim is to make mutations of the CC2D1A gene detectable at an early stage. Families can be informed about the findings regarding the diseases so that they can learn the risks of the disease in early pregnancy., It aims to minimize the effects of such diseases through special supportive treatment methods and living arrangements..It was determined that variants of the CC2D1A gene, which lead to intellectual disability and autism spectrum, were associated with different phenotypes. “Silia Genie” scientific discovery called, US-based biomedical and life sciences journal “Life Science Alliance”It was published in .IT WAS ALSO TESTED ON FRUIT FLYES. One of the stakeholders of the study, BUU Faculty of Medicine, Head of Medical Genetics, Prof.. Dr. Let's Laugh at My Şehime Temel, He said that, as Turkish scientists, they made a significant contribution to the world medical literature..Temel gave information about the results of the research., he spoke like this:”Frog, Even though it seems very distant from humans, it is the 'twin of humans'’ There is a publication saying. Our genes are almost 80 percent the same. So we deleted this gene in a frog at Yale University., We disabled the gene. We followed the development processes of the frog. In the frog, the heart was not on the left, but on the opposite side. Cysts developed in his kidneys. The flow in the cerebrospinal fluid was disrupted.”Temel stated that the same study was also tested on fruit flies., When the CC2D1A gene is deleted in these flies, which tend to gregarious, He stated that the flies stay in different places isolated from each other, just like we see in patients with autism spectrum. Temel stated that research and development studies are continuing., “Geni ‘silya genie’ We defined it in the literature as. We are the first to describe this in the literature.”
