Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology
Congenital sideroblastic anemia (CSA) is a series of rare, heterogeneous disorders, characterized by iron overload in the mitochondria of erythroblasts and ringed sideroblasts in bone marrow. In recent years, rapid development of next-generation sequencing technology brings great advance in understa...
Gespeichert in:
| Veröffentlicht in: | Gene 2018-08, Vol.668, p.182-189 |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 189 |
|---|---|
| container_issue | |
| container_start_page | 182 |
| container_title | Gene |
| container_volume | 668 |
| creator | Long, Zhangbiao Li, Hongmin Du, Yali Han, Bing |
| description | Congenital sideroblastic anemia (CSA) is a series of rare, heterogeneous disorders, characterized by iron overload in the mitochondria of erythroblasts and ringed sideroblasts in bone marrow. In recent years, rapid development of next-generation sequencing technology brings great advance in understanding of genetic and pathophysiologic features of CSA. Based on the pathophysiology of mitochondrial iron metabolism, causative genes of CSA can be divided into three subtypes: heme biosynthesis related; iron‑sulfur cluster biosynthesis and transportation related; and mitochondrial respiratory chain synthesis related. Patients with CSA present various clinical manifestation due to relevant mutation gene and require different treatment strategies. The recognition of the causative genes and evolution of pathogenicity is critical. In this review, we summarize the recent progress in mutation genes of CSA, and its potential role in the pathogenesis, diagnosis and treatment. |
| doi_str_mv | 10.1016/j.gene.2018.05.074 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2043181552</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0378111918305717</els_id><sourcerecordid>2043181552</sourcerecordid><originalsourceid>FETCH-LOGICAL-c356t-ba784d73fc715e0771705b9ccc7d1f8cb3d4b7676c618277bec4de4c831701623</originalsourceid><addsrcrecordid>eNp9kL1OwzAURi0EoqXwAgwoI0uC7cSxg1hQxZ9UqQvMlmPftK6SOMRJpb49jloY8XKXc7_r7yB0S3BCMMkfdskGWkgoJiLBLME8O0NzIngRY5yKczTHKRcxIaSYoSvvdzg8xuglmtGCCy4om6P10rUhxQ6qjrw10LuyVn6wOlItNFY9Rs9mr1oNPrJtNN2LmnFQg3WtD4iJOjVsXbc9eOtqtzlco4tK1R5uTnOBvl5fPpfv8Wr99rF8XsU6ZfkQl4qLzPC00pwwwJwTjllZaK25IZXQZWqykuc81zkRlPMSdGYg0yINIMlpukD3x9yud98j-EE21muo6_BtN3pJcZYSQULdgNIjqnvnfQ-V7HrbqP4gCZaTSLmTUzE5iZSYySAyLN2d8seyAfO38msuAE9HAELLvYVeem0hiDK2Bz1I4-x_-T-ax4TI</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2043181552</pqid></control><display><type>article</type><title>Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Long, Zhangbiao ; Li, Hongmin ; Du, Yali ; Han, Bing</creator><creatorcontrib>Long, Zhangbiao ; Li, Hongmin ; Du, Yali ; Han, Bing</creatorcontrib><description>Congenital sideroblastic anemia (CSA) is a series of rare, heterogeneous disorders, characterized by iron overload in the mitochondria of erythroblasts and ringed sideroblasts in bone marrow. In recent years, rapid development of next-generation sequencing technology brings great advance in understanding of genetic and pathophysiologic features of CSA. Based on the pathophysiology of mitochondrial iron metabolism, causative genes of CSA can be divided into three subtypes: heme biosynthesis related; iron‑sulfur cluster biosynthesis and transportation related; and mitochondrial respiratory chain synthesis related. Patients with CSA present various clinical manifestation due to relevant mutation gene and require different treatment strategies. The recognition of the causative genes and evolution of pathogenicity is critical. In this review, we summarize the recent progress in mutation genes of CSA, and its potential role in the pathogenesis, diagnosis and treatment.</description><identifier>ISSN: 0378-1119</identifier><identifier>EISSN: 1879-0038</identifier><identifier>DOI: 10.1016/j.gene.2018.05.074</identifier><identifier>PMID: 29787825</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Anemia, Sideroblastic - congenital ; Anemia, Sideroblastic - genetics ; Anemia, Sideroblastic - metabolism ; Congenital sideroblastic anemia ; Gene ; Heme - biosynthesis ; Humans ; Iron - metabolism ; Mitochondrial Proteins - biosynthesis ; Mutation ; Pathogenesis</subject><ispartof>Gene, 2018-08, Vol.668, p.182-189</ispartof><rights>2018 Elsevier B.V.</rights><rights>Copyright © 2018 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c356t-ba784d73fc715e0771705b9ccc7d1f8cb3d4b7676c618277bec4de4c831701623</citedby><cites>FETCH-LOGICAL-c356t-ba784d73fc715e0771705b9ccc7d1f8cb3d4b7676c618277bec4de4c831701623</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0378111918305717$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29787825$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Long, Zhangbiao</creatorcontrib><creatorcontrib>Li, Hongmin</creatorcontrib><creatorcontrib>Du, Yali</creatorcontrib><creatorcontrib>Han, Bing</creatorcontrib><title>Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology</title><title>Gene</title><addtitle>Gene</addtitle><description>Congenital sideroblastic anemia (CSA) is a series of rare, heterogeneous disorders, characterized by iron overload in the mitochondria of erythroblasts and ringed sideroblasts in bone marrow. In recent years, rapid development of next-generation sequencing technology brings great advance in understanding of genetic and pathophysiologic features of CSA. Based on the pathophysiology of mitochondrial iron metabolism, causative genes of CSA can be divided into three subtypes: heme biosynthesis related; iron‑sulfur cluster biosynthesis and transportation related; and mitochondrial respiratory chain synthesis related. Patients with CSA present various clinical manifestation due to relevant mutation gene and require different treatment strategies. The recognition of the causative genes and evolution of pathogenicity is critical. In this review, we summarize the recent progress in mutation genes of CSA, and its potential role in the pathogenesis, diagnosis and treatment.</description><subject>Anemia, Sideroblastic - congenital</subject><subject>Anemia, Sideroblastic - genetics</subject><subject>Anemia, Sideroblastic - metabolism</subject><subject>Congenital sideroblastic anemia</subject><subject>Gene</subject><subject>Heme - biosynthesis</subject><subject>Humans</subject><subject>Iron - metabolism</subject><subject>Mitochondrial Proteins - biosynthesis</subject><subject>Mutation</subject><subject>Pathogenesis</subject><issn>0378-1119</issn><issn>1879-0038</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kL1OwzAURi0EoqXwAgwoI0uC7cSxg1hQxZ9UqQvMlmPftK6SOMRJpb49jloY8XKXc7_r7yB0S3BCMMkfdskGWkgoJiLBLME8O0NzIngRY5yKczTHKRcxIaSYoSvvdzg8xuglmtGCCy4om6P10rUhxQ6qjrw10LuyVn6wOlItNFY9Rs9mr1oNPrJtNN2LmnFQg3WtD4iJOjVsXbc9eOtqtzlco4tK1R5uTnOBvl5fPpfv8Wr99rF8XsU6ZfkQl4qLzPC00pwwwJwTjllZaK25IZXQZWqykuc81zkRlPMSdGYg0yINIMlpukD3x9yud98j-EE21muo6_BtN3pJcZYSQULdgNIjqnvnfQ-V7HrbqP4gCZaTSLmTUzE5iZSYySAyLN2d8seyAfO38msuAE9HAELLvYVeem0hiDK2Bz1I4-x_-T-ax4TI</recordid><startdate>20180820</startdate><enddate>20180820</enddate><creator>Long, Zhangbiao</creator><creator>Li, Hongmin</creator><creator>Du, Yali</creator><creator>Han, Bing</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20180820</creationdate><title>Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology</title><author>Long, Zhangbiao ; Li, Hongmin ; Du, Yali ; Han, Bing</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c356t-ba784d73fc715e0771705b9ccc7d1f8cb3d4b7676c618277bec4de4c831701623</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Anemia, Sideroblastic - congenital</topic><topic>Anemia, Sideroblastic - genetics</topic><topic>Anemia, Sideroblastic - metabolism</topic><topic>Congenital sideroblastic anemia</topic><topic>Gene</topic><topic>Heme - biosynthesis</topic><topic>Humans</topic><topic>Iron - metabolism</topic><topic>Mitochondrial Proteins - biosynthesis</topic><topic>Mutation</topic><topic>Pathogenesis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Long, Zhangbiao</creatorcontrib><creatorcontrib>Li, Hongmin</creatorcontrib><creatorcontrib>Du, Yali</creatorcontrib><creatorcontrib>Han, Bing</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Gene</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Long, Zhangbiao</au><au>Li, Hongmin</au><au>Du, Yali</au><au>Han, Bing</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology</atitle><jtitle>Gene</jtitle><addtitle>Gene</addtitle><date>2018-08-20</date><risdate>2018</risdate><volume>668</volume><spage>182</spage><epage>189</epage><pages>182-189</pages><issn>0378-1119</issn><eissn>1879-0038</eissn><abstract>Congenital sideroblastic anemia (CSA) is a series of rare, heterogeneous disorders, characterized by iron overload in the mitochondria of erythroblasts and ringed sideroblasts in bone marrow. In recent years, rapid development of next-generation sequencing technology brings great advance in understanding of genetic and pathophysiologic features of CSA. Based on the pathophysiology of mitochondrial iron metabolism, causative genes of CSA can be divided into three subtypes: heme biosynthesis related; iron‑sulfur cluster biosynthesis and transportation related; and mitochondrial respiratory chain synthesis related. Patients with CSA present various clinical manifestation due to relevant mutation gene and require different treatment strategies. The recognition of the causative genes and evolution of pathogenicity is critical. In this review, we summarize the recent progress in mutation genes of CSA, and its potential role in the pathogenesis, diagnosis and treatment.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>29787825</pmid><doi>10.1016/j.gene.2018.05.074</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0378-1119 |
| ispartof | Gene, 2018-08, Vol.668, p.182-189 |
| issn | 0378-1119 1879-0038 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2043181552 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Anemia, Sideroblastic - congenital Anemia, Sideroblastic - genetics Anemia, Sideroblastic - metabolism Congenital sideroblastic anemia Gene Heme - biosynthesis Humans Iron - metabolism Mitochondrial Proteins - biosynthesis Mutation Pathogenesis |
| title | Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-09T00%3A06%3A27IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Congenital%20sideroblastic%20anemia:%20Advances%20in%20gene%20mutations%20and%20pathophysiology&rft.jtitle=Gene&rft.au=Long,%20Zhangbiao&rft.date=2018-08-20&rft.volume=668&rft.spage=182&rft.epage=189&rft.pages=182-189&rft.issn=0378-1119&rft.eissn=1879-0038&rft_id=info:doi/10.1016/j.gene.2018.05.074&rft_dat=%3Cproquest_cross%3E2043181552%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2043181552&rft_id=info:pmid/29787825&rft_els_id=S0378111918305717&rfr_iscdi=true |