{"title":"新生儿一过性锌缺乏症发病机制中的新型 SLC30A2 突变。","authors":"Taichiro Muto, Yuriko Kawase, Kaori Aiba, Miyuki Okuma, Naoya Itsumura, Shuangyu Luo, Namino Ogawa, Tokuji Tsuji, Taiho Kambe","doi":"10.1002/ped4.12366","DOIUrl":null,"url":null,"abstract":"<p><strong>Importance: </strong>Transient neonatal zinc deficiency (TNZD) occurs in breastfed infants due to abnormally low breast milk zinc levels. Mutations in the solute carrier family 30 member 2 (<i>SLC30A2</i>) gene, which encodes the zinc transporter ZNT2, cause low zinc concentration in breast milk.</p><p><strong>Objective: </strong>This study aimed to provide further insights into TNZD pathophysiology.</p><p><strong>Methods: </strong><i>SLC30A2</i> sequencing was performed in three unrelated Japanese mothers, whose infants developed TNZD due to low-zinc milk consumption. The effects of the identified mutations were examined using cell-based assays and luciferase reporter analysis.</p><p><strong>Results: </strong>Novel <i>SLC30A2</i> mutations were identified in each mother. One harbored a heterozygous missense mutation in the ZNT2 zinc-binding site, which resulted in defective zinc transport. The other two mothers exhibited multiple heterozygous mutations in the <i>SLC30A2</i> promoter, the first mutations in the <i>SLC30A2</i> regulatory region reported to date.</p><p><strong>Interpretation: </strong>This report provides new genetic insights into TNZD pathogenesis in breastfed infants.</p>","PeriodicalId":1,"journal":{"name":"Accounts of Chemical Research","volume":null,"pages":null},"PeriodicalIF":16.4000,"publicationDate":"2023-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b9/ca/PED4-7-6.PMC10030689.pdf","citationCount":"0","resultStr":"{\"title\":\"Novel <i>SLC30A2</i> mutations in the pathogenesis of transient neonatal zinc deficiency.\",\"authors\":\"Taichiro Muto, Yuriko Kawase, Kaori Aiba, Miyuki Okuma, Naoya Itsumura, Shuangyu Luo, Namino Ogawa, Tokuji Tsuji, Taiho Kambe\",\"doi\":\"10.1002/ped4.12366\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Importance: </strong>Transient neonatal zinc deficiency (TNZD) occurs in breastfed infants due to abnormally low breast milk zinc levels. Mutations in the solute carrier family 30 member 2 (<i>SLC30A2</i>) gene, which encodes the zinc transporter ZNT2, cause low zinc concentration in breast milk.</p><p><strong>Objective: </strong>This study aimed to provide further insights into TNZD pathophysiology.</p><p><strong>Methods: </strong><i>SLC30A2</i> sequencing was performed in three unrelated Japanese mothers, whose infants developed TNZD due to low-zinc milk consumption. The effects of the identified mutations were examined using cell-based assays and luciferase reporter analysis.</p><p><strong>Results: </strong>Novel <i>SLC30A2</i> mutations were identified in each mother. One harbored a heterozygous missense mutation in the ZNT2 zinc-binding site, which resulted in defective zinc transport. The other two mothers exhibited multiple heterozygous mutations in the <i>SLC30A2</i> promoter, the first mutations in the <i>SLC30A2</i> regulatory region reported to date.</p><p><strong>Interpretation: </strong>This report provides new genetic insights into TNZD pathogenesis in breastfed infants.</p>\",\"PeriodicalId\":1,\"journal\":{\"name\":\"Accounts of Chemical Research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":16.4000,\"publicationDate\":\"2023-02-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b9/ca/PED4-7-6.PMC10030689.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Accounts of Chemical Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/ped4.12366\",\"RegionNum\":1,\"RegionCategory\":\"化学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/3/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q1\",\"JCRName\":\"CHEMISTRY, MULTIDISCIPLINARY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Accounts of Chemical Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/ped4.12366","RegionNum":1,"RegionCategory":"化学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/3/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"CHEMISTRY, MULTIDISCIPLINARY","Score":null,"Total":0}
Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency.
Importance: Transient neonatal zinc deficiency (TNZD) occurs in breastfed infants due to abnormally low breast milk zinc levels. Mutations in the solute carrier family 30 member 2 (SLC30A2) gene, which encodes the zinc transporter ZNT2, cause low zinc concentration in breast milk.
Objective: This study aimed to provide further insights into TNZD pathophysiology.
Methods: SLC30A2 sequencing was performed in three unrelated Japanese mothers, whose infants developed TNZD due to low-zinc milk consumption. The effects of the identified mutations were examined using cell-based assays and luciferase reporter analysis.
Results: Novel SLC30A2 mutations were identified in each mother. One harbored a heterozygous missense mutation in the ZNT2 zinc-binding site, which resulted in defective zinc transport. The other two mothers exhibited multiple heterozygous mutations in the SLC30A2 promoter, the first mutations in the SLC30A2 regulatory region reported to date.
Interpretation: This report provides new genetic insights into TNZD pathogenesis in breastfed infants.
期刊介绍：
Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance.
Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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