{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T11:17:32Z","timestamp":1792495052323,"version":"4.5.0"},"reference-count":23,"publisher":"SAGE Publications","issue":"1_suppl","license":[{"start":{"date-parts":[[2015,3,18]],"date-time":"2015-03-18T00:00:00Z","timestamp":1426636800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ann Otol Rhinol Laryngol"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>We present a family with a mitochondrial DNA 3243A&gt;G mutation resulting in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), of which some members have hearing loss in which a novel mutation in the P2RX2 gene was identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic causes of hearing loss.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>A novel mutation in the P2RX2 gene that corresponded to c.601G&gt;A (p.Asp201Tyr) was identified. Two patients carried the mutation and had severe sensorineural hearing loss, while other members with MELAS (who did not carry the P2RX2 mutation) had normal hearing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>This is the first case report of a diagnosis of hearing loss caused by P2RX2 mutation in patients with MELAS. A potential explanation is that a decrease in adenosine triphosphate (ATP) production due to MELAS with a mitochondrial 3243A&gt;G mutation might suppress activation of P2X2 receptors. We also suggest that hearing loss caused by the P2RX2 mutation might be influenced by the decrease in ATP production due to MELAS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0003489415575045","type":"journal-article","created":{"date-parts":[[2015,3,18]],"date-time":"2015-03-18T22:46:35Z","timestamp":1426718795000},"page":"177S-183S","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":23,"title":["Hearing Loss Caused by a\n                    <i>P2RX2<\/i>\n                    Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation"],"prefix":"10.1177","volume":"124","author":[{"given":"Hideaki","family":"Moteki","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan"},{"name":"Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"},{"name":"Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hela","family":"Azaiez","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin T.","family":"Booth","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuru","family":"Hattori","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ai","family":"Sato","sequence":"additional","affiliation":[{"name":"Division of Diabetes, Endocrinology and Metabolism: Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiko","family":"Sato","sequence":"additional","affiliation":[{"name":"Division of Diabetes, Endocrinology and Metabolism: Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuo","family":"Motobayashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina M.","family":"Sloan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana L.","family":"Kolbe","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Eliot","family":"Shearer","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J. H.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-ichi","family":"Usami","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan"},{"name":"Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2015,3,18]]},"reference":[{"key":"bibr1-0003489415575045","unstructured":"WHO. Prevention of blindness and deafness: estimates. http:\/\/www.who.int\/pbd\/deafness\/estimates\/en\/. 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