9/13/2023 0 Comments Usher syndrome causesCochlear implants are currently used to reduce the burden of hearing loss in severe-to-profoundly deaf patients, but many promising treatments including gene, cell, and drug therapies to restore the native function of the inner ear and retinal sensory cells are under investigation. Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice, Journal of Cell Biology, October 15, 2012.Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a prevalence of about 1/10,000 (~ 400,000 people worldwide). Illustration – Copyright Institut PasteurĬaption : the structure of calyceal processes (green) seen under an electron microscope Source (2) Christine Petit is a professor at the Collège de France and the Institut Pasteur. (1) Retinitis pigmentosa is found in a variety of hereditary retinal impairments characterized by the progressive degeneration of photoreceptor cells which leads to night blindness and a gradually reduced field of vision. This research was supported by the European Community HEALTH-F2-2010-242013 (TREATRUSH), LHW-Stiftung, the Fondation Raymonde & Guy Strittmatter, FAUN Stiftung (Suchert Fondation), the Conny Maeva Chartiable Foundation, Fondation Orange, the French National Research Agency, , the “Foundation Fighting Blindness Paris Center Grant", and the Fondation Voir et Entendre. With these new findings, researchers hope to develop an improved animal model that will enable them to quickly put in place a therapeutic approach to treat retinitis pigmentosa in patients with Usher syndrome. Their research has most notably paved the way towards a better understanding of the molecular foundations of hearing. Pioneers in the study of hereditary deafness, the team under Professor Christine Petit has identified three out of the five proteins that cause auditory impairments in type 1 Usher syndrome. This is why retinitis pigmentosa is not observed when the genes responsible for Usher syndrome in humans are mutated in mice. While primate photoreceptor cells include calyceal processes, rodent photoreceptor cells do not. In their study, researchers also showed a major difference between rodent photoreceptor cells and those in primates. Researchers were able to observe the structure of these calyceal processes using high-resolution electron microscopy techniques (see image). This defect is caused by the dysfunction of one or more proteins, five of which were identified by the researchers, and which ensure the proper cohesion of calyceal processes. It stems from a defect in the organization of cellular structures, called calyceal processes, necessary to maintain eyesight. Aziz El-Amraoui (Institut Pasteur) and Professor José-Alain Sahel (Institut de la Vision), has brought new hope as the researchers have recently discovered the cause of retinitis pigmentosa in patients suffering from type 1 Usher syndrome. The work done by the team of Professor Christine Petit (2), head of the Genetics and Physiology of Hearing Unit (Institut Pasteur), in collaboration with Dr. However, there is no treatment available to prevent, or slow the progression of, retinitis pigmentosa. Patient care for treating the auditory impairments associated with this disease is currently available. The prevalence of Usher syndrome is estimated at a rate of 1 in 30,000. Type 1 Usher syndrome (40% of cases) is the most severe form of the disease, resulting in profound deafness and the early onset of vision loss. Usher syndrome is a genetic disease that results in congenital deafness as well as progressive vision loss caused by retinitis pigmentosa (1).
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