{"id":7929,"date":"2017-08-29T11:35:54","date_gmt":"2017-08-29T18:35:54","guid":{"rendered":"http:\/\/blogs.oregonstate.edu\/impact\/?p=7929"},"modified":"2018-01-04T17:34:03","modified_gmt":"2018-01-05T01:34:03","slug":"scientists-develop-new-technique-understand-treat-human-deafness","status":"publish","type":"post","link":"https:\/\/dev.blogs.oregonstate.edu\/impact\/2017\/08\/scientists-develop-new-technique-understand-treat-human-deafness\/","title":{"rendered":"Scientists develop new technique to understand and treat human deafness"},"content":{"rendered":"

Nearly two decades ago,\u00a0scientists found that mutations in the otoferlin gene lead to near absolute deafness in humans and is responsible for profound congenital deafness in children.\u00a0Otoferlin is present in the cochlear inner hair cells and mediates neurotransmitter release of the contents of sound to the auditory nerves and eventually to the brain.<\/p>\n

Due to its large size and low solubility, scientists have been able to study the protein in only limited ways. This has prevented \u201ca molecular level explanation for otoferlin-related forms of deafness,\u201d according to an article published in the Proceedings of the National Academy of Sciences<\/em><\/a> (PNAS) by researchers in the Department of Biochemistry and Biophysics at Oregon State University.<\/p>\n

Associate biochemistry professor Colin Johnson<\/a>, doctoral biochemistry student Nicole Hams, former biochemistry doctoral student Murugesh Padmanaryana and biophysicist Weihong Qiu<\/a> collaborated on the project.<\/p>\n

The team has come up with a novel method to overcome major challenges in the study of the otoferlin protein and understanding of its function and molecular level explanations of its defective mutations. Johnson and his group developed a single molecule assay to quantitatively characterize full-length otoferlin from mammalian cultured cells.<\/p>\n

“A major challenge\u00a0in the hearing and deafness field has been in identifying a truncated form of otoferlin small enough to be packaged into delivery vehicles for gene therapy,” Johnson said.<\/p>\n

The large size of otoferlin has up to recently prevented \u201crescue experiments,\u201d from being conducted. In a rescue experiment, a modified mRNA for otoferlin is transfected in an animal model to replace a suppressed or knocked down otoferlin gene responsible for deafness.<\/p>\n

The study by Johnson and colleagues determined a truncated form of otoferlin that can function in the encoding of sound. In addition, they also discovered that there are significant differences between otoferlin and other synaptic proteins that highlight the former\u2019s unique interactions with the calcium channel responsible for hearing.<\/p>\n

The study also demonstrates that a deafness-causing mutation in otoferlin weakens the binding between otoferlin and a calcium synapse in the ear, \u201csuggesting that deficiencies in this interaction may form the basis for otoferlin-related hearing loss.\u201d<\/p>\n

This pathbreaking study by Johnson and his team advances scientific understanding of otoferlin as a calcium sensitive linker protein and its role in the transport of neurotransmitters in response to sound.<\/p>\n

Johnson was recently awarded a 5-year $1.7 M NIH grant to support his pioneering work.<\/p>\n

Read more on Johnson’s research: Curing human deafness with the help of zebrafish<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"

Biochemists develop a novel method to overcome major challenges in the study of the otoferlin protein and its role in human deafness. <\/p>\n","protected":false},"author":6617,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"jetpack_post_was_ever_published":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2}},"categories":[640488,712346,1507,523,1168296],"tags":[648365,650933,1733,37185],"class_list":["post-7929","post","type-post","status-publish","format-standard","hentry","category-bb","category-biohealth-science","category-faculty-and-staff","category-research","category-winter-2018","tag-author-srila-nayak","tag-biohealth-sciences","tag-healthy-people","tag-stem"],"jetpack_publicize_connections":[],"jetpack_featured_media_url":"","jetpack_shortlink":"https:\/\/wp.me\/p6vHeb-23T","jetpack-related-posts":[{"id":5861,"url":"https:\/\/dev.blogs.oregonstate.edu\/impact\/2017\/02\/finding-cure-human-deafness-help-zebrafish\/","url_meta":{"origin":7929,"position":0},"title":"Curing human deafness with the help of zebrafish","author":"Katharine de Baun","date":"February 3, 2017","format":false,"excerpt":"Why do zebrafish have to do with understanding the causes -- and possible cures for -- human deafness?","rel":"","context":"In "Biochemistry & Biophysics"","block_context":{"text":"Biochemistry & Biophysics","link":"https:\/\/dev.blogs.oregonstate.edu\/impact\/category\/departments\/bb\/"},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2017\/01\/jcjohnsonbiochem.com-34667.jpg?resize=350%2C200","width":350,"height":200},"classes":[]},{"id":11983,"url":"https:\/\/dev.blogs.oregonstate.edu\/impact\/2019\/10\/deafness-causing-protein-deficiency-makes-brain-rewire-itself-research-suggests\/","url_meta":{"origin":7929,"position":1},"title":"Deafness-causing protein deficiency makes brain rewire itself, research suggests","author":"nayaks","date":"October 7, 2019","format":false,"excerpt":"Biochemists find that the brains of people with congenital deafness may be rewiring themselves in ways that affect how those people learn.","rel":"","context":"In "Biochemistry & Biophysics"","block_context":{"text":"Biochemistry & Biophysics","link":"https:\/\/dev.blogs.oregonstate.edu\/impact\/category\/departments\/bb\/"},"img":{"alt_text":"","src":"","width":0,"height":0},"classes":[]},{"id":5316,"url":"https:\/\/dev.blogs.oregonstate.edu\/impact\/2016\/12\/grad-students-research-selected-thermo-fishers-promotional-posters\/","url_meta":{"origin":7929,"position":2},"title":"Grad student’s research selected for Thermo Fisher’s promotional posters","author":"farrisd","date":"December 21, 2016","format":false,"excerpt":"Biochemistry & biophysics graduate student Paroma Chatterjee's thesis project selected to represent Thermo Fisher\u2019s traveling posters on molecular probes brand reagents at airports worldwide.","rel":"","context":"In "Biochemistry & Biophysics"","block_context":{"text":"Biochemistry & Biophysics","link":"https:\/\/dev.blogs.oregonstate.edu\/impact\/category\/departments\/bb\/"},"img":{"alt_text":"thermofisher-poster_web","src":"https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2016\/12\/Thermofisher-poster_web.jpg?resize=350%2C200","width":350,"height":200},"classes":[]},{"id":9983,"url":"https:\/\/dev.blogs.oregonstate.edu\/impact\/2018\/08\/college-of-science-research-funding-from-fy18\/","url_meta":{"origin":7929,"position":3},"title":"College of Science research funding from FY18","author":"farrisd","date":"August 30, 2018","format":false,"excerpt":"The College of Science received $11.3 million in research grants and awards in FY18.","rel":"","context":"In "Faculty and Staff"","block_context":{"text":"Faculty and Staff","link":"https:\/\/dev.blogs.oregonstate.edu\/impact\/category\/people\/faculty-and-staff\/"},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2018\/08\/FY2018.png?resize=350%2C200","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2018\/08\/FY2018.png?resize=350%2C200 1x, https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2018\/08\/FY2018.png?resize=525%2C300 1.5x, https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2018\/08\/FY2018.png?resize=700%2C400 2x, https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2018\/08\/FY2018.png?resize=1050%2C600 3x"},"classes":[]},{"id":4730,"url":"https:\/\/dev.blogs.oregonstate.edu\/impact\/2016\/08\/science-research-funding-trending\/","url_meta":{"origin":7929,"position":4},"title":"Research funding trending up","author":"farrisd","date":"August 31, 2016","format":false,"excerpt":"The College of Science received $12.3 million in research grants and awards in fiscal year 2015-2016, fueling strong growth of 25% since FY14.","rel":"","context":"In "Press Releases"","block_context":{"text":"Press Releases","link":"https:\/\/dev.blogs.oregonstate.edu\/impact\/category\/news\/press-releases\/"},"img":{"alt_text":"Funding pie","src":"https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2016\/08\/Funding-pie.png?resize=350%2C200","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2016\/08\/Funding-pie.png?resize=350%2C200 1x, https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2016\/08\/Funding-pie.png?resize=525%2C300 1.5x, https:\/\/i0.wp.com\/blogs.oregonstate.edu\/impact\/files\/2016\/08\/Funding-pie.png?resize=700%2C400 2x"},"classes":[]},{"id":5770,"url":"https:\/\/dev.blogs.oregonstate.edu\/impact\/2017\/01\/deans-list-fall-term-2016\/","url_meta":{"origin":7929,"position":5},"title":"Dean’s List: Fall 2016","author":"nayaks","date":"January 25, 2017","format":false,"excerpt":"Nearly 25% of science students make the Dean's Honor Roll fall term 2016.","rel":"","context":"In "Student Success"","block_context":{"text":"Student Success","link":"https:\/\/dev.blogs.oregonstate.edu\/impact\/category\/area\/student-success\/"},"img":{"alt_text":"","src":"","width":0,"height":0},"classes":[]}],"jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/dev.blogs.oregonstate.edu\/impact\/wp-json\/wp\/v2\/posts\/7929","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dev.blogs.oregonstate.edu\/impact\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dev.blogs.oregonstate.edu\/impact\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dev.blogs.oregonstate.edu\/impact\/wp-json\/wp\/v2\/users\/6617"}],"replies":[{"embeddable":true,"href":"https:\/\/dev.blogs.oregonstate.edu\/impact\/wp-json\/wp\/v2\/comments?post=7929"}],"version-history":[{"count":5,"href":"https:\/\/dev.blogs.oregonstate.edu\/impact\/wp-json\/wp\/v2\/posts\/7929\/revisions"}],"predecessor-version":[{"id":8735,"href":"https:\/\/dev.blogs.oregonstate.edu\/impact\/wp-json\/wp\/v2\/posts\/7929\/revisions\/8735"}],"wp:attachment":[{"href":"https:\/\/dev.blogs.oregonstate.edu\/impact\/wp-json\/wp\/v2\/media?parent=7929"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dev.blogs.oregonstate.edu\/impact\/wp-json\/wp\/v2\/categories?post=7929"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dev.blogs.oregonstate.edu\/impact\/wp-json\/wp\/v2\/tags?post=7929"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}