Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures
Epitranscriptomic systems enable post-transcriptional modifications of cellular RNA that are essential for regulating gene expression. Of the ~ 170 known RNA chemical modifications, methylation is among the most common. Loss of function mutations in NSUN3 , encoding the 5-methylcytosine (m5C) methyl...
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| Veröffentlicht in: | Journal of molecular neuroscience 2020-12, Vol.70 (12), p.1962-1965 |
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| container_end_page | 1965 |
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| container_issue | 12 |
| container_start_page | 1962 |
| container_title | Journal of molecular neuroscience |
| container_volume | 70 |
| creator | Paramasivam, Arumugam Meena, Angamuthu K. Venkatapathi, Challa Pitceathly, Robert D.S. Thangaraj, Kumarasamy |
| description | Epitranscriptomic systems enable post-transcriptional modifications of cellular RNA that are essential for regulating gene expression. Of the ~ 170 known RNA chemical modifications, methylation is among the most common. Loss of function mutations in
NSUN3
, encoding the 5-methylcytosine (m5C) methyltransferase NSun3, have been linked to multisystem mitochondrial disease associated with combined oxidative phosphorylation deficiency. Here, we report a patient with early-onset mitochondrial encephalomyopathy and seizures in whom the novel biallelic
NSUN3
missense variants c.421G>C (p.A141P) and c.454T>A (p.C152S) were detected. Segregation studies and in silico functional analysis confirmed the likely pathogenic effects of both variants. These findings expand the molecular and phenotypic spectrum of
NSUN3
-related mitochondrial disease. |
| doi_str_mv | 10.1007/s12031-020-01595-8 |
| format | Article |
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NSUN3
, encoding the 5-methylcytosine (m5C) methyltransferase NSun3, have been linked to multisystem mitochondrial disease associated with combined oxidative phosphorylation deficiency. Here, we report a patient with early-onset mitochondrial encephalomyopathy and seizures in whom the novel biallelic
NSUN3
missense variants c.421G>C (p.A141P) and c.454T>A (p.C152S) were detected. Segregation studies and in silico functional analysis confirmed the likely pathogenic effects of both variants. These findings expand the molecular and phenotypic spectrum of
NSUN3
-related mitochondrial disease.</description><identifier>ISSN: 0895-8696</identifier><identifier>EISSN: 1559-1166</identifier><identifier>DOI: 10.1007/s12031-020-01595-8</identifier><identifier>PMID: 32488845</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Age ; Biomedical and Life Sciences ; Biomedicine ; Cell Biology ; Convulsions & seizures ; DNA methylation ; Functional analysis ; Gene expression ; Methyltransferase ; Mitochondria ; Mutation ; Neurochemistry ; Neurology ; Neurosciences ; Oxidative phosphorylation ; Phosphorylation ; Post-transcription ; Proteomics ; Ribonucleic acid ; RNA ; Seizures</subject><ispartof>Journal of molecular neuroscience, 2020-12, Vol.70 (12), p.1962-1965</ispartof><rights>The Author(s) 2020. corrected publication July 2020</rights><rights>The Author(s) 2020. corrected publication July 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s) 2020, corrected publication July 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c540t-9492010f41713ce09b04c0a45c3d90f2eb0ddc05a48bdca11947758c842299a93</citedby><cites>FETCH-LOGICAL-c540t-9492010f41713ce09b04c0a45c3d90f2eb0ddc05a48bdca11947758c842299a93</cites><orcidid>0000-0002-0075-0106 ; 0000-0002-6123-4551</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12031-020-01595-8$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12031-020-01595-8$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>230,314,780,784,885,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32488845$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Paramasivam, Arumugam</creatorcontrib><creatorcontrib>Meena, Angamuthu K.</creatorcontrib><creatorcontrib>Venkatapathi, Challa</creatorcontrib><creatorcontrib>Pitceathly, Robert D.S.</creatorcontrib><creatorcontrib>Thangaraj, Kumarasamy</creatorcontrib><title>Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures</title><title>Journal of molecular neuroscience</title><addtitle>J Mol Neurosci</addtitle><addtitle>J Mol Neurosci</addtitle><description>Epitranscriptomic systems enable post-transcriptional modifications of cellular RNA that are essential for regulating gene expression. Of the ~ 170 known RNA chemical modifications, methylation is among the most common. Loss of function mutations in
NSUN3
, encoding the 5-methylcytosine (m5C) methyltransferase NSun3, have been linked to multisystem mitochondrial disease associated with combined oxidative phosphorylation deficiency. Here, we report a patient with early-onset mitochondrial encephalomyopathy and seizures in whom the novel biallelic
NSUN3
missense variants c.421G>C (p.A141P) and c.454T>A (p.C152S) were detected. Segregation studies and in silico functional analysis confirmed the likely pathogenic effects of both variants. These findings expand the molecular and phenotypic spectrum of
NSUN3
-related mitochondrial disease.</description><subject>Age</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cell Biology</subject><subject>Convulsions & seizures</subject><subject>DNA methylation</subject><subject>Functional analysis</subject><subject>Gene expression</subject><subject>Methyltransferase</subject><subject>Mitochondria</subject><subject>Mutation</subject><subject>Neurochemistry</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Oxidative phosphorylation</subject><subject>Phosphorylation</subject><subject>Post-transcription</subject><subject>Proteomics</subject><subject>Ribonucleic acid</subject><subject>RNA</subject><subject>Seizures</subject><issn>0895-8696</issn><issn>1559-1166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kU1vEzEQhi1ERUPhD3BAlrj0su34a9e-IEEUKFKbHkq5IcvxOo0rxw72bqX01-M0pXwcOFnyPH5nxg9CbwicEIDutBAKjDRAoQEilGjkMzQhQqiGkLZ9jiYgd5etag_Ry1JuASjhRL5Ah4xyKSUXE_R9nu5cwB-9CcEFb_H86nrO8DeTvYlDwVMzFodnJodtcxmLG_CFH5JdpdhXIuBZtG6zMiGtt2ljhtUWm9jjK-fvx-zKK3SwNKG414_nEbr-NPs6PWvOLz9_mX44b6zgMDSKKwoElpx0hFkHagHcguHCsl7BkroF9L0FYbhc9NYQonjXCWklp1Qpo9gRer_P3YyLteuti0M2QW-yX5u81cl4_Xcl-pW-SXe6a4UE0daA48eAnH6Mrgx67Yt1IZjo0lg05aBq1_p7FX33D3qbxhzrepXqSMtk27FK0T1lcyolu-XTMAT0zp7e29PVnn6wp3fRb_9c4-nJL10VYHug1FK8cfl37__E_gSe76Vr</recordid><startdate>20201201</startdate><enddate>20201201</enddate><creator>Paramasivam, Arumugam</creator><creator>Meena, Angamuthu K.</creator><creator>Venkatapathi, Challa</creator><creator>Pitceathly, Robert D.S.</creator><creator>Thangaraj, Kumarasamy</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>C6C</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QL</scope><scope>7QR</scope><scope>7T7</scope><scope>7TK</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M7N</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-0075-0106</orcidid><orcidid>https://orcid.org/0000-0002-6123-4551</orcidid></search><sort><creationdate>20201201</creationdate><title>Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures</title><author>Paramasivam, Arumugam ; Meena, Angamuthu K. ; Venkatapathi, Challa ; Pitceathly, Robert D.S. ; Thangaraj, Kumarasamy</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c540t-9492010f41713ce09b04c0a45c3d90f2eb0ddc05a48bdca11947758c842299a93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Age</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cell Biology</topic><topic>Convulsions & seizures</topic><topic>DNA methylation</topic><topic>Functional analysis</topic><topic>Gene expression</topic><topic>Methyltransferase</topic><topic>Mitochondria</topic><topic>Mutation</topic><topic>Neurochemistry</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Oxidative phosphorylation</topic><topic>Phosphorylation</topic><topic>Post-transcription</topic><topic>Proteomics</topic><topic>Ribonucleic acid</topic><topic>RNA</topic><topic>Seizures</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Paramasivam, Arumugam</creatorcontrib><creatorcontrib>Meena, Angamuthu K.</creatorcontrib><creatorcontrib>Venkatapathi, Challa</creatorcontrib><creatorcontrib>Pitceathly, Robert D.S.</creatorcontrib><creatorcontrib>Thangaraj, Kumarasamy</creatorcontrib><collection>SpringerOpen</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Chemoreception Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection (Proquest)</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Psychology Database (ProQuest)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of molecular neuroscience</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Paramasivam, Arumugam</au><au>Meena, Angamuthu K.</au><au>Venkatapathi, Challa</au><au>Pitceathly, Robert D.S.</au><au>Thangaraj, Kumarasamy</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures</atitle><jtitle>Journal of molecular neuroscience</jtitle><stitle>J Mol Neurosci</stitle><addtitle>J Mol Neurosci</addtitle><date>2020-12-01</date><risdate>2020</risdate><volume>70</volume><issue>12</issue><spage>1962</spage><epage>1965</epage><pages>1962-1965</pages><issn>0895-8696</issn><eissn>1559-1166</eissn><abstract>Epitranscriptomic systems enable post-transcriptional modifications of cellular RNA that are essential for regulating gene expression. Of the ~ 170 known RNA chemical modifications, methylation is among the most common. Loss of function mutations in
NSUN3
, encoding the 5-methylcytosine (m5C) methyltransferase NSun3, have been linked to multisystem mitochondrial disease associated with combined oxidative phosphorylation deficiency. Here, we report a patient with early-onset mitochondrial encephalomyopathy and seizures in whom the novel biallelic
NSUN3
missense variants c.421G>C (p.A141P) and c.454T>A (p.C152S) were detected. Segregation studies and in silico functional analysis confirmed the likely pathogenic effects of both variants. These findings expand the molecular and phenotypic spectrum of
NSUN3
-related mitochondrial disease.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>32488845</pmid><doi>10.1007/s12031-020-01595-8</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-0075-0106</orcidid><orcidid>https://orcid.org/0000-0002-6123-4551</orcidid><oa>free_for_read</oa></addata></record> |
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| source | Springer Online Journals【Remote access available】 |
| subjects | Age Biomedical and Life Sciences Biomedicine Cell Biology Convulsions & seizures DNA methylation Functional analysis Gene expression Methyltransferase Mitochondria Mutation Neurochemistry Neurology Neurosciences Oxidative phosphorylation Phosphorylation Post-transcription Proteomics Ribonucleic acid RNA Seizures |
| title | Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures |
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