Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation
Three patients born to the same set of consanguineous parents presented with antenatal skin oedema, hypotonia, cardiomyopathy and tubulopathy. The enzymatic activities of multiple mitochondrial respiratory chain complexes were reduced in muscle. Marked reduction of 12s rRNA, the core of the mitochon...
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| Veröffentlicht in: | Journal of medical genetics 2007-12, Vol.44 (12), p.784-786 |
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| creator | Saada, A Shaag, A Arnon, S Dolfin, T Miller, C Fuchs-Telem, D Lombes, A Elpeleg, O |
| description | Three patients born to the same set of consanguineous parents presented with antenatal skin oedema, hypotonia, cardiomyopathy and tubulopathy. The enzymatic activities of multiple mitochondrial respiratory chain complexes were reduced in muscle. Marked reduction of 12s rRNA, the core of the mitochondrial small ribosomal subunit, was found in fibroblasts. Homozygosity mapping led to the identification of a mutation in the MRPS22 gene, which encodes a mitochondrial ribosomal protein. Transfection of the patient cells with wild-type MRPS22 cDNA increased the 12s rRNA content and normalised the enzymatic activities. Quantification of mitochondrial transcripts is advisable in patients with multiple defects of the mitochondrial respiratory chain. |
| doi_str_mv | 10.1136/jmg.2007.053116 |
| format | Article |
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The enzymatic activities of multiple mitochondrial respiratory chain complexes were reduced in muscle. Marked reduction of 12s rRNA, the core of the mitochondrial small ribosomal subunit, was found in fibroblasts. Homozygosity mapping led to the identification of a mutation in the MRPS22 gene, which encodes a mitochondrial ribosomal protein. Transfection of the patient cells with wild-type MRPS22 cDNA increased the 12s rRNA content and normalised the enzymatic activities. Quantification of mitochondrial transcripts is advisable in patients with multiple defects of the mitochondrial respiratory chain.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.2007.053116</identifier><identifier>PMID: 17873122</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Biological and medical sciences ; Cardiomyopathy, Hypertrophic - congenital ; Cardiomyopathy, Hypertrophic - genetics ; Cells, Cultured - metabolism ; Consanguinity ; Conserved Sequence ; Defects ; Deoxyribonucleic acid ; DNA ; Edema - congenital ; Edema - genetics ; Errors of metabolism ; Fatal Outcome ; Female ; Fetal Diseases - diagnostic imaging ; Fetal Diseases - genetics ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genes ; Genetic testing ; Genetics of eukaryotes. Biological and molecular evolution ; Genomes ; Humans ; Infant, Newborn ; Kidney Diseases - congenital ; Kidney Diseases - genetics ; Medical genetics ; Medical sciences ; Metabolic diseases ; Miscellaneous hereditary metabolic disorders ; Mitochondria, Muscle - enzymology ; Mitochondrial Diseases - genetics ; Mitochondrial Diseases - pathology ; Mitochondrial DNA ; Mitochondrial Myopathies - genetics ; Mitochondrial Proteins - genetics ; Mitochondrial Proteins - physiology ; Molecular and cellular biology ; Mutation ; Patients ; Proteins ; Recombinant Fusion Proteins - physiology ; Ribosomal Proteins - genetics ; Ribosomal Proteins - physiology ; RNA, Ribosomal - metabolism ; Short Report ; Transfection ; Ultrasonography</subject><ispartof>Journal of medical genetics, 2007-12, Vol.44 (12), p.784-786</ispartof><rights>2007 BMJ Publishing Group</rights><rights>2008 INIST-CNRS</rights><rights>Copyright: 2007 2007 BMJ Publishing Group</rights><rights>Copyright © 2007 BMJ Publishing Group Ltd</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b619t-891f4fa5344b7d21907e31ec0561146b3f57dd19a7fec9f8e1b06a9dc1b2c07f3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://jmg.bmj.com/content/44/12/784.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttps://jmg.bmj.com/content/44/12/784.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,230,314,723,776,780,881,3183,23550,27901,27902,53766,53768,77342,77373</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19867030$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17873122$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Saada, A</creatorcontrib><creatorcontrib>Shaag, A</creatorcontrib><creatorcontrib>Arnon, S</creatorcontrib><creatorcontrib>Dolfin, T</creatorcontrib><creatorcontrib>Miller, C</creatorcontrib><creatorcontrib>Fuchs-Telem, D</creatorcontrib><creatorcontrib>Lombes, A</creatorcontrib><creatorcontrib>Elpeleg, O</creatorcontrib><title>Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Three patients born to the same set of consanguineous parents presented with antenatal skin oedema, hypotonia, cardiomyopathy and tubulopathy. The enzymatic activities of multiple mitochondrial respiratory chain complexes were reduced in muscle. Marked reduction of 12s rRNA, the core of the mitochondrial small ribosomal subunit, was found in fibroblasts. Homozygosity mapping led to the identification of a mutation in the MRPS22 gene, which encodes a mitochondrial ribosomal protein. Transfection of the patient cells with wild-type MRPS22 cDNA increased the 12s rRNA content and normalised the enzymatic activities. Quantification of mitochondrial transcripts is advisable in patients with multiple defects of the mitochondrial respiratory chain.</description><subject>Biological and medical sciences</subject><subject>Cardiomyopathy, Hypertrophic - congenital</subject><subject>Cardiomyopathy, Hypertrophic - genetics</subject><subject>Cells, Cultured - metabolism</subject><subject>Consanguinity</subject><subject>Conserved Sequence</subject><subject>Defects</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Edema - congenital</subject><subject>Edema - genetics</subject><subject>Errors of metabolism</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Fetal Diseases - diagnostic imaging</subject><subject>Fetal Diseases - genetics</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>General aspects. Genetic counseling</subject><subject>Genes</subject><subject>Genetic testing</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genomes</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Kidney Diseases - congenital</subject><subject>Kidney Diseases - genetics</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Mitochondria, Muscle - enzymology</subject><subject>Mitochondrial Diseases - genetics</subject><subject>Mitochondrial Diseases - pathology</subject><subject>Mitochondrial DNA</subject><subject>Mitochondrial Myopathies - genetics</subject><subject>Mitochondrial Proteins - genetics</subject><subject>Mitochondrial Proteins - physiology</subject><subject>Molecular and cellular biology</subject><subject>Mutation</subject><subject>Patients</subject><subject>Proteins</subject><subject>Recombinant Fusion Proteins - physiology</subject><subject>Ribosomal Proteins - genetics</subject><subject>Ribosomal Proteins - physiology</subject><subject>RNA, Ribosomal - metabolism</subject><subject>Short Report</subject><subject>Transfection</subject><subject>Ultrasonography</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkdtrFDEUh4Modq0--yYDoqgw25xkksy8CO3iDdYL3hB8CJlMps12JlmTjNj_3iyztNqXPiXhfPlxzvkQegh4CUD50WY8XRKMxRIzCsBvoQVUvC45qarbaIExISVhDT1A92LcYAxUAL-LDkDUggIhC_Tz2CXjVFJDMdrk9Zl3XbD51dloVDSFVlM0XdFeXKsH2_rox3zbBp-MdcWz958_fSHkeTFOSSXr3X10p1dDNA_25yH69vrV19Xbcv3xzbvV8bpsOTSprBvoq14xWlWt6Ag0WBgKRmPGIU_T0p6JroNGid7opq8NtJirptPQEo1FTw_Ryzl3O7Wj6bRxKahBboMdVbiQXln5f8XZM3nqf0vCGamB54Cn-4Dgf00mJjnaqM0wKGf8FCVvMBEc2I0gwVSQHJnBx9fAjZ-Cy1uQeffZVE1gRx3NlA4-xmD6y54By51fmf3KnV85-80_Hv076hW_F5qBJ3tARa2GPiinbbzimpoLTHHmypmzMZk_l3UVziUXVDD54ftKMgE_1uyEyJPMv5j5dtzc2OVfbWDKWQ</recordid><startdate>20071201</startdate><enddate>20071201</enddate><creator>Saada, A</creator><creator>Shaag, A</creator><creator>Arnon, S</creator><creator>Dolfin, T</creator><creator>Miller, C</creator><creator>Fuchs-Telem, D</creator><creator>Lombes, A</creator><creator>Elpeleg, O</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><scope>IQODW</scope><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20071201</creationdate><title>Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation</title><author>Saada, A ; Shaag, A ; Arnon, S ; Dolfin, T ; Miller, C ; Fuchs-Telem, D ; Lombes, A ; Elpeleg, O</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b619t-891f4fa5344b7d21907e31ec0561146b3f57dd19a7fec9f8e1b06a9dc1b2c07f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Biological and medical sciences</topic><topic>Cardiomyopathy, Hypertrophic - congenital</topic><topic>Cardiomyopathy, Hypertrophic - genetics</topic><topic>Cells, Cultured - metabolism</topic><topic>Consanguinity</topic><topic>Conserved Sequence</topic><topic>Defects</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Edema - congenital</topic><topic>Edema - genetics</topic><topic>Errors of metabolism</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Fetal Diseases - diagnostic imaging</topic><topic>Fetal Diseases - genetics</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>General aspects. Genetic counseling</topic><topic>Genes</topic><topic>Genetic testing</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genomes</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Kidney Diseases - congenital</topic><topic>Kidney Diseases - genetics</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Mitochondria, Muscle - enzymology</topic><topic>Mitochondrial Diseases - genetics</topic><topic>Mitochondrial Diseases - pathology</topic><topic>Mitochondrial DNA</topic><topic>Mitochondrial Myopathies - genetics</topic><topic>Mitochondrial Proteins - genetics</topic><topic>Mitochondrial Proteins - physiology</topic><topic>Molecular and cellular biology</topic><topic>Mutation</topic><topic>Patients</topic><topic>Proteins</topic><topic>Recombinant Fusion Proteins - physiology</topic><topic>Ribosomal Proteins - genetics</topic><topic>Ribosomal Proteins - physiology</topic><topic>RNA, Ribosomal - metabolism</topic><topic>Short Report</topic><topic>Transfection</topic><topic>Ultrasonography</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Saada, A</creatorcontrib><creatorcontrib>Shaag, A</creatorcontrib><creatorcontrib>Arnon, S</creatorcontrib><creatorcontrib>Dolfin, T</creatorcontrib><creatorcontrib>Miller, C</creatorcontrib><creatorcontrib>Fuchs-Telem, D</creatorcontrib><creatorcontrib>Lombes, A</creatorcontrib><creatorcontrib>Elpeleg, O</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</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 Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</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 Central China</collection><collection>ProQuest Central Basic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Saada, A</au><au>Shaag, A</au><au>Arnon, S</au><au>Dolfin, T</au><au>Miller, C</au><au>Fuchs-Telem, D</au><au>Lombes, A</au><au>Elpeleg, O</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2007-12-01</date><risdate>2007</risdate><volume>44</volume><issue>12</issue><spage>784</spage><epage>786</epage><pages>784-786</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Three patients born to the same set of consanguineous parents presented with antenatal skin oedema, hypotonia, cardiomyopathy and tubulopathy. The enzymatic activities of multiple mitochondrial respiratory chain complexes were reduced in muscle. Marked reduction of 12s rRNA, the core of the mitochondrial small ribosomal subunit, was found in fibroblasts. Homozygosity mapping led to the identification of a mutation in the MRPS22 gene, which encodes a mitochondrial ribosomal protein. Transfection of the patient cells with wild-type MRPS22 cDNA increased the 12s rRNA content and normalised the enzymatic activities. Quantification of mitochondrial transcripts is advisable in patients with multiple defects of the mitochondrial respiratory chain.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>17873122</pmid><doi>10.1136/jmg.2007.053116</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Biological and medical sciences Cardiomyopathy, Hypertrophic - congenital Cardiomyopathy, Hypertrophic - genetics Cells, Cultured - metabolism Consanguinity Conserved Sequence Defects Deoxyribonucleic acid DNA Edema - congenital Edema - genetics Errors of metabolism Fatal Outcome Female Fetal Diseases - diagnostic imaging Fetal Diseases - genetics Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genes Genetic testing Genetics of eukaryotes. Biological and molecular evolution Genomes Humans Infant, Newborn Kidney Diseases - congenital Kidney Diseases - genetics Medical genetics Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Mitochondria, Muscle - enzymology Mitochondrial Diseases - genetics Mitochondrial Diseases - pathology Mitochondrial DNA Mitochondrial Myopathies - genetics Mitochondrial Proteins - genetics Mitochondrial Proteins - physiology Molecular and cellular biology Mutation Patients Proteins Recombinant Fusion Proteins - physiology Ribosomal Proteins - genetics Ribosomal Proteins - physiology RNA, Ribosomal - metabolism Short Report Transfection Ultrasonography |
| title | Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation |
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