USH1C: Difference between revisions

Revision as of 16:11, 9 February 2025

USH1C

USH1C is a gene that encodes the protein harmonin, which is involved in the function of hair cells in the inner ear. Mutations in this gene are associated with Usher syndrome, a condition characterized by partial or total hearing loss and vision loss.

Function

The USH1C gene provides instructions for making a protein called harmonin. Harmonin is part of a group of proteins that are important for the development and maintenance of hair cells in the inner ear. These cells are essential for converting sound waves into electrical signals that are interpreted by the brain as sound, a process known as mechanoelectrical transduction.

Harmonin is thought to play a role in the organization of the hair cell's stereocilia, which are hair-like projections that are crucial for hearing. It interacts with other proteins to form a complex that helps maintain the structure and function of these cells.

Clinical Significance

Mutations in the USH1C gene are known to cause Usher syndrome type 1C, a form of Usher syndrome that is particularly prevalent in the Acadian population of Louisiana. This condition is characterized by profound congenital deafness, progressive vision loss due to retinitis pigmentosa, and balance problems.

Research

Research into USH1C and its associated protein harmonin is ongoing, with studies focusing on understanding the precise mechanisms by which mutations lead to the symptoms of Usher syndrome. There is also interest in developing gene therapy approaches to correct these mutations and restore function.

Related Pages

Template:Usher syndrome

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 == USH1C ==
-USH1C is a gene that is associated with a rare genetic disorder known as Usher syndrome type 1C. This disorder is characterized by a combination of hearing loss and visual impairment, specifically retinitis pigmentosa (RP). Usher syndrome is the most common cause of combined deafness and blindness.
+'''USH1C''' is a gene that encodes the protein harmonin, which is involved in the function of [[hair cells]] in the [[inner ear]]. Mutations in this gene are associated with [[Usher syndrome]], a condition characterized by partial or total [[hearing loss]] and [[vision loss]].
-=== Gene ===
+== Function ==
-The USH1C gene is located on chromosome 11 and encodes a protein called harmonin. Harmonin is primarily found in the inner ear and retina, where it plays a crucial role in the development and maintenance of sensory cells. Mutations in the USH1C gene disrupt the normal function of harmonin, leading to the symptoms observed in Usher syndrome type 1C.
+The USH1C gene provides instructions for making a protein called harmonin. Harmonin is part of a group of proteins that are important for the development and maintenance of hair cells in the inner ear. These cells are essential for converting sound waves into electrical signals that are interpreted by the brain as sound, a process known as [[mechanoelectrical transduction]].
-=== Clinical Features ===
+[[File:Mechanoelectrical_transduction_in_hair_cells.png|thumb|right|Diagram of mechanoelectrical transduction in hair cells.]]
-Individuals with Usher syndrome type 1C typically experience profound hearing loss from birth or early childhood. This hearing loss is often accompanied by balance problems due to abnormalities in the inner ear. In terms of visual impairment, retinitis pigmentosa is the most common manifestation. Retinitis pigmentosa is a degenerative eye disease that causes progressive loss of peripheral vision, night blindness, and eventually central vision loss.
+Harmonin is thought to play a role in the organization of the hair cell's stereocilia, which are hair-like projections that are crucial for hearing. It interacts with other proteins to form a complex that helps maintain the structure and function of these cells.
-=== Diagnosis ===
+== Clinical Significance ==
-Diagnosing Usher syndrome type 1C involves a combination of clinical evaluation, hearing tests, and genetic testing. A thorough examination of the eyes and ears is necessary to identify the characteristic features of the disorder. Audiometric tests can determine the severity and type of hearing loss, while genetic testing can confirm the presence of mutations in the USH1C gene.
+Mutations in the USH1C gene are known to cause Usher syndrome type 1C, a form of [[Usher syndrome]] that is particularly prevalent in the [[Acadian]] population of [[Louisiana]]. This condition is characterized by profound congenital deafness, progressive vision loss due to [[retinitis pigmentosa]], and balance problems.
-=== Treatment ===
+== Research ==
-Currently, there is no cure for Usher syndrome type 1C. Treatment primarily focuses on managing the symptoms and providing support to individuals affected by the disorder. Hearing aids and cochlear implants can help improve hearing abilities, while low vision aids and mobility training can assist with visual impairment. Regular monitoring by healthcare professionals is essential to address any additional medical or psychological needs.
+Research into USH1C and its associated protein harmonin is ongoing, with studies focusing on understanding the precise mechanisms by which mutations lead to the symptoms of Usher syndrome. There is also interest in developing gene therapy approaches to correct these mutations and restore function.
-=== Research and Future Directions ===
+== Related Pages ==
-Research efforts are ongoing to better understand the underlying mechanisms of Usher syndrome type 1C and develop potential therapeutic interventions. Gene therapy, which involves introducing functional copies of the USH1C gene into affected cells, holds promise for future treatment options. Additionally, advancements in stem cell research and regenerative medicine may offer potential avenues for restoring hearing and vision in individuals with Usher syndrome.
-== See Also ==
 * [[Usher syndrome]]
+* [[Hearing loss]]
 * [[Retinitis pigmentosa]]
-* [[Deafness]]
+* [[Inner ear]]
-* [[Blindness]]
-== References ==
-. Ahmed ZM, Riazuddin S, Riazuddin S, et al. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet. 2009;75(1):86-91. doi:10.1111/j.1399-0004.2008.01107.x
+{{Usher syndrome}}
-. Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006;83(1):97-119. doi:10.1016/j.exer.2005.11.015
+[[Category:Genes on human chromosome 11]]
-{{dictionary-stub1}}
+[[Category:Deafness-associated genes]]
+[[Category:Usher syndrome]]