Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes
Abstract Mitochondrial dynamics, including mitochondrial division, fusion and transport, are integral parts of mitochondrial and cellular function. DNM1L encodes dynamin-related protein 1 (Drp1), a member of the dynamin-related protein family that is required for mitochondrial division. Several de n...
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| Veröffentlicht in: | Human molecular genetics 2018-11, Vol.27 (21), p.3710-3719 |
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| container_title | Human molecular genetics |
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| creator | Whitley, Brittany N Lam, Christina Cui, Hong Haude, Katrina Bai, Renkui Escobar, Luis Hamilton, Afifa Brady, Lauren Tarnopolsky, Mark A Dengle, Lauren Picker, Jonathan Lincoln, Sharyn Lackner, Laura L Glass, Ian A Hoppins, Suzanne |
| description | Abstract
Mitochondrial dynamics, including mitochondrial division, fusion and transport, are integral parts of mitochondrial and cellular function. DNM1L encodes dynamin-related protein 1 (Drp1), a member of the dynamin-related protein family that is required for mitochondrial division. Several de novo mutations in DNM1L are associated with a range of disease states. Here we report the identification of five patients with pathogenic or likely pathogenic variants of DNM1L, including two novel variants. Interestingly, all of the positions identified in these Drp1 variants are fully conserved among all members of the dynamin-related protein family that are involved in membrane division and organelle division events. This work builds upon and expands the clinical spectrum associated with Drp1 variants in patients and their impact on mitochondrial division in model cells. |
| doi_str_mv | 10.1093/hmg/ddy287 |
| format | Article |
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Mitochondrial dynamics, including mitochondrial division, fusion and transport, are integral parts of mitochondrial and cellular function. DNM1L encodes dynamin-related protein 1 (Drp1), a member of the dynamin-related protein family that is required for mitochondrial division. Several de novo mutations in DNM1L are associated with a range of disease states. Here we report the identification of five patients with pathogenic or likely pathogenic variants of DNM1L, including two novel variants. Interestingly, all of the positions identified in these Drp1 variants are fully conserved among all members of the dynamin-related protein family that are involved in membrane division and organelle division events. This work builds upon and expands the clinical spectrum associated with Drp1 variants in patients and their impact on mitochondrial division in model cells.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddy287</identifier><identifier>PMID: 30085106</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>Cell Line ; Child ; DNA Mutational Analysis ; Dynamins ; Female ; GTP Phosphohydrolases - genetics ; GTP Phosphohydrolases - physiology ; Humans ; Infant ; Male ; Microtubule-Associated Proteins - genetics ; Microtubule-Associated Proteins - physiology ; Mitochondrial Diseases - enzymology ; Mitochondrial Diseases - physiopathology ; Mitochondrial Dynamics ; Mitochondrial Proteins - genetics ; Mitochondrial Proteins - physiology ; Mutation</subject><ispartof>Human molecular genetics, 2018-11, Vol.27 (21), p.3710-3719</ispartof><rights>The Author(s) 2018. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2018</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c408t-46af104bf21cc1442bde4d601b6030250866759af94147fe431fbd88409a92253</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,777,781,882,1579,27905,27906</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30085106$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Whitley, Brittany N</creatorcontrib><creatorcontrib>Lam, Christina</creatorcontrib><creatorcontrib>Cui, Hong</creatorcontrib><creatorcontrib>Haude, Katrina</creatorcontrib><creatorcontrib>Bai, Renkui</creatorcontrib><creatorcontrib>Escobar, Luis</creatorcontrib><creatorcontrib>Hamilton, Afifa</creatorcontrib><creatorcontrib>Brady, Lauren</creatorcontrib><creatorcontrib>Tarnopolsky, Mark A</creatorcontrib><creatorcontrib>Dengle, Lauren</creatorcontrib><creatorcontrib>Picker, Jonathan</creatorcontrib><creatorcontrib>Lincoln, Sharyn</creatorcontrib><creatorcontrib>Lackner, Laura L</creatorcontrib><creatorcontrib>Glass, Ian A</creatorcontrib><creatorcontrib>Hoppins, Suzanne</creatorcontrib><title>Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>Abstract
Mitochondrial dynamics, including mitochondrial division, fusion and transport, are integral parts of mitochondrial and cellular function. DNM1L encodes dynamin-related protein 1 (Drp1), a member of the dynamin-related protein family that is required for mitochondrial division. Several de novo mutations in DNM1L are associated with a range of disease states. Here we report the identification of five patients with pathogenic or likely pathogenic variants of DNM1L, including two novel variants. Interestingly, all of the positions identified in these Drp1 variants are fully conserved among all members of the dynamin-related protein family that are involved in membrane division and organelle division events. This work builds upon and expands the clinical spectrum associated with Drp1 variants in patients and their impact on mitochondrial division in model cells.</description><subject>Cell Line</subject><subject>Child</subject><subject>DNA Mutational Analysis</subject><subject>Dynamins</subject><subject>Female</subject><subject>GTP Phosphohydrolases - genetics</subject><subject>GTP Phosphohydrolases - physiology</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Microtubule-Associated Proteins - genetics</subject><subject>Microtubule-Associated Proteins - physiology</subject><subject>Mitochondrial Diseases - enzymology</subject><subject>Mitochondrial Diseases - physiopathology</subject><subject>Mitochondrial Dynamics</subject><subject>Mitochondrial Proteins - genetics</subject><subject>Mitochondrial Proteins - physiology</subject><subject>Mutation</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU9LxDAQxYMouq5e_ACSiyBCddKm2eYiLOtfELwoHkPapDbSNjVpV_bbm6XrohcvM4f58ebxHkInBC4J8OSqat6vlFrF2WwHTQhlEMWQJbtoApzRiHFgB-jQ-w8Awmgy20cHCUCWEmAT9DbPtXOy7fGN60jUaGVkrxVuTG-LyrbKGVljZZbGG9vizmmv295j0-JqaGTr8ZfpK7yUgctrje3QF7bR_gjtlbL2-nizp-j17vZl8RA9Pd8_LuZPUUEh6yPKZEmA5mVMioJQGudKU8WA5AwSiFPIGJulXJacEjorNU1Imasso8Alj-M0maLrUbcb8mC-COacrEXnTCPdSlhpxN9LayrxbpeCEc5YuhY43wg4-zlo34vG-ELXtWy1HbwIUVIeBskCejGihbPeO11u3xAQ6yZEaEKMTQT49LexLfoTfQDORsAO3X9C3wo6kys</recordid><startdate>20181101</startdate><enddate>20181101</enddate><creator>Whitley, Brittany N</creator><creator>Lam, Christina</creator><creator>Cui, Hong</creator><creator>Haude, Katrina</creator><creator>Bai, Renkui</creator><creator>Escobar, Luis</creator><creator>Hamilton, Afifa</creator><creator>Brady, Lauren</creator><creator>Tarnopolsky, Mark A</creator><creator>Dengle, Lauren</creator><creator>Picker, Jonathan</creator><creator>Lincoln, Sharyn</creator><creator>Lackner, Laura L</creator><creator>Glass, Ian A</creator><creator>Hoppins, Suzanne</creator><general>Oxford University Press</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><scope>5PM</scope></search><sort><creationdate>20181101</creationdate><title>Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes</title><author>Whitley, Brittany N ; Lam, Christina ; Cui, Hong ; Haude, Katrina ; Bai, Renkui ; Escobar, Luis ; Hamilton, Afifa ; Brady, Lauren ; Tarnopolsky, Mark A ; Dengle, Lauren ; Picker, Jonathan ; Lincoln, Sharyn ; Lackner, Laura L ; Glass, Ian A ; Hoppins, Suzanne</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c408t-46af104bf21cc1442bde4d601b6030250866759af94147fe431fbd88409a92253</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Cell Line</topic><topic>Child</topic><topic>DNA Mutational Analysis</topic><topic>Dynamins</topic><topic>Female</topic><topic>GTP Phosphohydrolases - genetics</topic><topic>GTP Phosphohydrolases - physiology</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Microtubule-Associated Proteins - genetics</topic><topic>Microtubule-Associated Proteins - physiology</topic><topic>Mitochondrial Diseases - enzymology</topic><topic>Mitochondrial Diseases - physiopathology</topic><topic>Mitochondrial Dynamics</topic><topic>Mitochondrial Proteins - genetics</topic><topic>Mitochondrial Proteins - physiology</topic><topic>Mutation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Whitley, Brittany N</creatorcontrib><creatorcontrib>Lam, Christina</creatorcontrib><creatorcontrib>Cui, Hong</creatorcontrib><creatorcontrib>Haude, Katrina</creatorcontrib><creatorcontrib>Bai, Renkui</creatorcontrib><creatorcontrib>Escobar, Luis</creatorcontrib><creatorcontrib>Hamilton, Afifa</creatorcontrib><creatorcontrib>Brady, Lauren</creatorcontrib><creatorcontrib>Tarnopolsky, Mark A</creatorcontrib><creatorcontrib>Dengle, Lauren</creatorcontrib><creatorcontrib>Picker, Jonathan</creatorcontrib><creatorcontrib>Lincoln, Sharyn</creatorcontrib><creatorcontrib>Lackner, Laura L</creatorcontrib><creatorcontrib>Glass, Ian A</creatorcontrib><creatorcontrib>Hoppins, Suzanne</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><collection>PubMed Central (Full Participant titles)</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Whitley, Brittany N</au><au>Lam, Christina</au><au>Cui, Hong</au><au>Haude, Katrina</au><au>Bai, Renkui</au><au>Escobar, Luis</au><au>Hamilton, Afifa</au><au>Brady, Lauren</au><au>Tarnopolsky, Mark A</au><au>Dengle, Lauren</au><au>Picker, Jonathan</au><au>Lincoln, Sharyn</au><au>Lackner, Laura L</au><au>Glass, Ian A</au><au>Hoppins, Suzanne</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>2018-11-01</date><risdate>2018</risdate><volume>27</volume><issue>21</issue><spage>3710</spage><epage>3719</epage><pages>3710-3719</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><abstract>Abstract
Mitochondrial dynamics, including mitochondrial division, fusion and transport, are integral parts of mitochondrial and cellular function. DNM1L encodes dynamin-related protein 1 (Drp1), a member of the dynamin-related protein family that is required for mitochondrial division. Several de novo mutations in DNM1L are associated with a range of disease states. Here we report the identification of five patients with pathogenic or likely pathogenic variants of DNM1L, including two novel variants. Interestingly, all of the positions identified in these Drp1 variants are fully conserved among all members of the dynamin-related protein family that are involved in membrane division and organelle division events. This work builds upon and expands the clinical spectrum associated with Drp1 variants in patients and their impact on mitochondrial division in model cells.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>30085106</pmid><doi>10.1093/hmg/ddy287</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford University Press Journals All Titles (1996-Current); Alma/SFX Local Collection |
| subjects | Cell Line Child DNA Mutational Analysis Dynamins Female GTP Phosphohydrolases - genetics GTP Phosphohydrolases - physiology Humans Infant Male Microtubule-Associated Proteins - genetics Microtubule-Associated Proteins - physiology Mitochondrial Diseases - enzymology Mitochondrial Diseases - physiopathology Mitochondrial Dynamics Mitochondrial Proteins - genetics Mitochondrial Proteins - physiology Mutation |
| title | Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes |
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