12/11/2023 0 Comments Type 2a usher syndromeThis new discovery not only provides more insights into the causes of Usher Syndrome Type 2A, but also demonstrates advantages that TES can bring to Usher syndrome researchers. In this case, they found that this new mutation blocks important proteins from being made. Here, the researchers used a technique called targeted exome sequencing (TES), where they analyzed thousands of genes at one time to look for changes or new information. Identifying and understanding a genetic mutation is important because it opens up the possibility of gene therapy in the future. Mutations are genetic changes that affect the proper function of the gene and/or the protein it encodes. Researchers in China have identified a new USH2A gene mutation in an individual with Usher syndrome type 2. These insights may lead to additional research and discoveries that may one day, turn into a cure for Usher syndrome. This discovery increases our understanding of the USH2A gene, the Usherin protein, and how they are connected to our senses. Both groups of mice were able to detect temperature changes and pain, but the mice with USH2A were better at detecting low levels of vibrations than the mice without this gene. Experiments were performed with two groups of mice, with and without the USH2A gene. It is now thought also to be involved with touch. When the production of Usherin is affected due to a mutation in the USH2A gene, this results in Usher syndrome, with known impairments in vision and hearing. Researchers found Usherin protein in the “Meissner corpuscle”, which is a nerve ending in the skin of our fingers. A new study has discovered that this protein may also be involved in a third sense – the sense of touch. Usherin, a protein associated with the USH2A gene that causes Usher Syndrome Type 2A, helps us see and hear. Pre-clinical USH2A c.2299delG mutation gene editing using the CRISPR system
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