Epigenetics and Gene Regulations in the Sensory Organs of Rare Hereditary Disorders

Usher syndrome (USH) is a rare hereditary genetic disorder characterized by hearing loss, visual impairment, and balance dysfunction. Patients with USH have a higher prevalence of neurological and behavioral disorders compared to the general population. Although genetic studies have identified various molecular components of the inner-ear and retina, many remain unknown. A less explored area is the interplay of epigenetics and gene regulation in disease progression and severity. The proper function of the eye and inner-ear relies on the stability of cilia, which is compromised in USH. Myosins, like MYO7A, are crucial for cilia structure stabilization and cargo transport. While mutations in MYO7A do not directly cause cell death, the progression of the disease is influenced by epigenetic changes and the regulation of other essential pathways that support the survival of eye photoreceptors and inner-ear hair cells. Understanding these mechanisms may pave the way for new therapies for USH.Developing therapies for vision and hearing loss in Usher Syndrome (USH) is particularly challenging due to the limitations of existing mammalian models like rodents, which often do not replicate the expected retinal phenotypes of the condition. A significant area of research focuses on the differences in gene regulation and mutation handling between rodents and humans. Understanding these distinctions is vital for creating effective therapeutic strategies based on preclinical studies. Mutations in USH-related genes, such as MYO7A, result in complications involving ciliary structural stabilization and cellular protein cargo trafficking. The integrity of sensory organ structures is essential for perceiving light and sound, with their absence leading to stress accumulation. Furthermore, the role of oxidative stress and structural anomalies in gene regulation in such conditions requires further investigation. Human retinas are rich in cone cells, while rodent models predominantly contain rod cells, leading to fundamental differences in gene regulation and mutation effects. By exploring the epigenetics and regulatory mechanisms involved, we can study insights into cell-specific behaviors, potentially identifying factors that trigger cell death and disease progression in USH. This knowledge could pave the way for developing targeted therapies to enhance outcomes for affected patients.This research topic invites contributions for innovation in studying rare genetic disorders that lack proper models in understanding and developing therapeutic strategies for progressive vision and hearing loss conditions. The specific theme we would like contributors to address is 1. Gene Regulation in sensory organs Eye and Ear disorder conditions, focusing on various pathways from cellular stress to death mechanisms. 2. Oxidative Stress and its role in progressive vision and hearing loss via gene regulations and changes. 3. Therapeutic Innovations: finding logical solutions for the problem in these conditions, by using small molecules or RNA or Cas9-based therapies. 4. Preclinical Models: Proposing novel models that better replicate the human condition. We are interested in various manuscript types, including Original Research Articles, and review Articles that advance the understanding and treatment of Usher Syndrome. Contributions should aim to bridge knowledge gaps and promote collaboration in this critical area of research. Topic editors: Rakesh Radhakrishnan, Tapan Sharma, Lingling Zhang Source: https://www.frontiersin.org/research-topics/69085/epigenetics-and-gene-regulations-in-the-sensory-organs-of-rare-hereditary-disorders