Researchers from Genentech, Stanford University School of Medicine, University of California, San Francisco and others have used a high-precision proteomics to identify genes related to diseases such as Jourbert syndrome (JS). The research results were published in the journal "Cell".
Joubert syndrome is a genetic disease that affects the development of the cerebellum and brain stem. These brain regions coordinate basic functions such as movement, regulation of breathing, swallowing, heart rate and consciousness. This latest study confirms the key information leading to genetic changes in JS and cillia cell structures.
Although this disease is rare, previous studies have identified four other genetic markers. The researchers believe that these findings are of great significance. Joubert syndrome can cause stunting, poor coordination of movement, irregular breathing, visual defects, kidney failure, etc. Many symptoms make diagnosis difficult. The researchers found that mutations in the RPGRIP1L gene laid the foundation for accurate DNA testing. This paper describes a genetic mutation that can inhibit the interaction between two special cilia proteins.
The findings of this study have increased people's further understanding and understanding of the JS disease. The discovery of this gene allows researchers to further understand the development of the brain, retina, and kidneys, better understand normal and abnormal brains, and eventually find effective treatments for related diseases.
Patients with Jourbert syndrome have varying degrees of symptoms due to dysplasia or deformity of cerebellar vermis and parts of the brainstem: including lack of muscle control, hypernea, abnormal eye and tongue movements, and Kidney problems. The severity of the disease may vary due to the presence of genetically modified individuals, which may affect the severity and performance of the disease. This disease is quite rare, and it is not easy to conduct genetic analysis due to the small number of patients, so the related gene research is very slow.
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