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We applied a gene therapy approach in a mouse model of JLN syndrome (\n                    <jats:italic>Kcnq1<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    mice) to prevent the development of deafness in the adult stage. A modified adeno\u2010associated virus construct carrying a\n                    <jats:italic>Kcnq1<\/jats:italic>\n                    expression cassette was injected postnatally (P0\u2013P2) into the endolymph, which resulted in\n                    <jats:italic>Kcnq1<\/jats:italic>\n                    expression in most cochlear marginal cells where native\n                    <jats:italic>Kcnq1<\/jats:italic>\n                    is exclusively expressed. We also found that extensive ectopic virally mediated\n                    <jats:italic>Kcnq1<\/jats:italic>\n                    transgene expression did not affect normal cochlear functions. Examination of cochlear morphology showed that the collapse of the Reissner's membrane and degeneration of hair cells (HCs) and cells in the spiral ganglia were corrected in\n                    <jats:italic>Kcnq1<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    mice. Electrophysiological tests showed normal endocochlear potential in treated ears. In addition, auditory brainstem responses showed significant hearing preservation in the injected ears, ranging from 20\u00a0dB improvement to complete correction of the deafness phenotype. Our results demonstrate the first successful gene therapy treatment for gene defects specifically affecting the function of the stria vascularis, which is a major site affected by genetic mutations in inherited hearing loss.\n                  <\/jats:p>","DOI":"10.15252\/emmm.201404929","type":"journal-article","created":{"date-parts":[[2015,6,17]],"date-time":"2015-06-17T22:46:52Z","timestamp":1434581212000},"page":"1077-1086","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":117,"title":["Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange\u2010Nielsen deafness syndrome"],"prefix":"10.1038","volume":"7","author":[{"given":"Qing","family":"Chang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianjun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeunjung","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Binfei","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunfeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huawei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,6,17]]},"reference":[{"key":"BFEMMM201404929_CR1","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1073\/pnas.0606855104","volume":"104","author":"S Ahmad","year":"2007","unstructured":"Ahmad S, Tang W, Chang Q, Qu Y, Hibshman J, Li Y, Sohl G, Willecke K, Chen P, Lin X (2007) Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human\u00a0connexin30\u2010linked deafness. 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