A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions
► We report a patient with maternally inherited type 2 diabetes and deafness (MIDD). ► We detected the mitochondrial m.3308T>C and m.1555A>G mutations in muscle and blood. ► We revealed the presence of multiple mitochondrial deletions in the skeletal muscle. ► The deletions remove several tRNA...
Gespeichert in:
Veröffentlicht in: | Biochemical and biophysical research communications 2013-02, Vol.431 (4), p.670-674 |
---|---|
Hauptverfasser: | , , , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 674 |
---|---|
container_issue | 4 |
container_start_page | 670 |
container_title | Biochemical and biophysical research communications |
container_volume | 431 |
creator | Mezghani, Najla Mnif, Mouna Mkaouar-Rebai, Emna Kallel, Nozha Charfi, Nadia Abid, Mohamed Fakhfakh, Faiza |
description | ► We report a patient with maternally inherited type 2 diabetes and deafness (MIDD). ► We detected the mitochondrial m.3308T>C and m.1555A>G mutations in muscle and blood. ► We revealed the presence of multiple mitochondrial deletions in the skeletal muscle. ► The deletions remove several tRNA and protein-coding genes.
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial syndrome characterized by the onset of sensorineural hearing loss and diabetes in adults. Some patients may have other additional clinical features common in mitochondrial disorders such as pigmentary retinopathy, ptosis, cardiomyopathy, myopathy and renal affections. We report a 40-year-old Tunisian patient presenting maternally inherited type 2 diabetes and deafness (MIDD). A molecular genetic analysis was conducted in the patient and his twin sister, but no reported mutations in the tRNALeu(UUR) and tRNAGlu genes were found, especially the two mitochondrial m.3243A>G and the m.14709T>C mutations in muscle and blood leukocytes. The results showed the presence of the mitochondrial NADH deshydrogenase 1 (ND1) homoplasmic m.3308T>C mutation the 2 tested tissues (blood leukocytes and skeletal muscle) of the proband and in the patient’s sister blood leukocytes. In addition, we identified the mitochondrial 12S rRNA m.1555A>G mutation in muscle and blood leukocytes. The Long-range PCR amplification revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient’s skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of MIDD in whom we detected the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations with mitochondrial multiple deletions. |
doi_str_mv | 10.1016/j.bbrc.2013.01.063 |
format | Article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1323808633</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0006291X13001423</els_id><sourcerecordid>1323808633</sourcerecordid><originalsourceid>FETCH-LOGICAL-c389t-1c8d25eab1502efac5092837fb0cf91bf7b1544869ab18c8925474148ce2b553</originalsourceid><addsrcrecordid>eNqNkc2KFDEURoMoTs_oC7iQLN1UeW9SVZ0CGWhanRGGEbQX7kIqdYtOUz9tklLmcXxTU92jS3EVkvt950IOY68QcgSs3h7ypvE2F4AyB8yhkk_YCqGGTCAUT9kKAKpM1Pjtgl2GcABALKr6ObsQUpbrQsCK_drwwUTyo-n7B-7GPXkXqeWtMw1FCtyM6UKmGykEfjTR0Rj5Txf3PO6Jo_jK_Zf7BMmxLMvN9c2psIzu32N6lRLU7nrLhzmm7jQmYAiTdWZZcsIMcx_dsSc-uDjZ_TS23pk-7ezpVHjBnnWmD_Ty8bxiu48fdtvb7O7zzaft5i6zUtUxQ6taUZJpsARBnbEl1ELJddeA7WpsunWaFIWq6hRRVtWiLNYFFsqSaMpSXrE3Z-zRT99nClEPLljqezPSNAeNUkgFqpLyP6JYSKnWUKSoOEetn0Lw1Omjd4PxDxpBLxL1QS8S9SJRA-okMZVeP_LnZqD2b-WPtRR4dw5Q-o8fjrwONnmx1DpPNup2cv_i_waN-qx8</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1314338704</pqid></control><display><type>article</type><title>A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions</title><source>MEDLINE</source><source>Access via ScienceDirect (Elsevier)</source><creator>Mezghani, Najla ; Mnif, Mouna ; Mkaouar-Rebai, Emna ; Kallel, Nozha ; Charfi, Nadia ; Abid, Mohamed ; Fakhfakh, Faiza</creator><creatorcontrib>Mezghani, Najla ; Mnif, Mouna ; Mkaouar-Rebai, Emna ; Kallel, Nozha ; Charfi, Nadia ; Abid, Mohamed ; Fakhfakh, Faiza</creatorcontrib><description>► We report a patient with maternally inherited type 2 diabetes and deafness (MIDD). ► We detected the mitochondrial m.3308T>C and m.1555A>G mutations in muscle and blood. ► We revealed the presence of multiple mitochondrial deletions in the skeletal muscle. ► The deletions remove several tRNA and protein-coding genes.
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial syndrome characterized by the onset of sensorineural hearing loss and diabetes in adults. Some patients may have other additional clinical features common in mitochondrial disorders such as pigmentary retinopathy, ptosis, cardiomyopathy, myopathy and renal affections. We report a 40-year-old Tunisian patient presenting maternally inherited type 2 diabetes and deafness (MIDD). A molecular genetic analysis was conducted in the patient and his twin sister, but no reported mutations in the tRNALeu(UUR) and tRNAGlu genes were found, especially the two mitochondrial m.3243A>G and the m.14709T>C mutations in muscle and blood leukocytes. The results showed the presence of the mitochondrial NADH deshydrogenase 1 (ND1) homoplasmic m.3308T>C mutation the 2 tested tissues (blood leukocytes and skeletal muscle) of the proband and in the patient’s sister blood leukocytes. In addition, we identified the mitochondrial 12S rRNA m.1555A>G mutation in muscle and blood leukocytes. The Long-range PCR amplification revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient’s skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of MIDD in whom we detected the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations with mitochondrial multiple deletions.</description><identifier>ISSN: 0006-291X</identifier><identifier>EISSN: 1090-2104</identifier><identifier>DOI: 10.1016/j.bbrc.2013.01.063</identifier><identifier>PMID: 23357420</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Amino Acid Sequence ; Deafness - blood ; Deafness - genetics ; Deafness - pathology ; Diabetes Mellitus, Type 2 - blood ; Diabetes Mellitus, Type 2 - genetics ; Diabetes Mellitus, Type 2 - pathology ; DNA, Mitochondrial - genetics ; Humans ; Leukocytes - ultrastructure ; m.1555A>G ; m.3308T>C ; Male ; MIDD ; Mitochondrial deletions ; Mitochondrial Diseases - blood ; Mitochondrial Diseases - genetics ; Mitochondrial Diseases - pathology ; Molecular Sequence Data ; Muscle, Skeletal - pathology ; Mutation ; RNA, Ribosomal - genetics ; Sequence Deletion</subject><ispartof>Biochemical and biophysical research communications, 2013-02, Vol.431 (4), p.670-674</ispartof><rights>2013 Elsevier Inc.</rights><rights>Copyright © 2013 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c389t-1c8d25eab1502efac5092837fb0cf91bf7b1544869ab18c8925474148ce2b553</citedby><cites>FETCH-LOGICAL-c389t-1c8d25eab1502efac5092837fb0cf91bf7b1544869ab18c8925474148ce2b553</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.bbrc.2013.01.063$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,781,785,3551,27926,27927,45997</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23357420$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mezghani, Najla</creatorcontrib><creatorcontrib>Mnif, Mouna</creatorcontrib><creatorcontrib>Mkaouar-Rebai, Emna</creatorcontrib><creatorcontrib>Kallel, Nozha</creatorcontrib><creatorcontrib>Charfi, Nadia</creatorcontrib><creatorcontrib>Abid, Mohamed</creatorcontrib><creatorcontrib>Fakhfakh, Faiza</creatorcontrib><title>A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions</title><title>Biochemical and biophysical research communications</title><addtitle>Biochem Biophys Res Commun</addtitle><description>► We report a patient with maternally inherited type 2 diabetes and deafness (MIDD). ► We detected the mitochondrial m.3308T>C and m.1555A>G mutations in muscle and blood. ► We revealed the presence of multiple mitochondrial deletions in the skeletal muscle. ► The deletions remove several tRNA and protein-coding genes.
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial syndrome characterized by the onset of sensorineural hearing loss and diabetes in adults. Some patients may have other additional clinical features common in mitochondrial disorders such as pigmentary retinopathy, ptosis, cardiomyopathy, myopathy and renal affections. We report a 40-year-old Tunisian patient presenting maternally inherited type 2 diabetes and deafness (MIDD). A molecular genetic analysis was conducted in the patient and his twin sister, but no reported mutations in the tRNALeu(UUR) and tRNAGlu genes were found, especially the two mitochondrial m.3243A>G and the m.14709T>C mutations in muscle and blood leukocytes. The results showed the presence of the mitochondrial NADH deshydrogenase 1 (ND1) homoplasmic m.3308T>C mutation the 2 tested tissues (blood leukocytes and skeletal muscle) of the proband and in the patient’s sister blood leukocytes. In addition, we identified the mitochondrial 12S rRNA m.1555A>G mutation in muscle and blood leukocytes. The Long-range PCR amplification revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient’s skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of MIDD in whom we detected the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations with mitochondrial multiple deletions.</description><subject>Adult</subject><subject>Amino Acid Sequence</subject><subject>Deafness - blood</subject><subject>Deafness - genetics</subject><subject>Deafness - pathology</subject><subject>Diabetes Mellitus, Type 2 - blood</subject><subject>Diabetes Mellitus, Type 2 - genetics</subject><subject>Diabetes Mellitus, Type 2 - pathology</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Humans</subject><subject>Leukocytes - ultrastructure</subject><subject>m.1555A>G</subject><subject>m.3308T>C</subject><subject>Male</subject><subject>MIDD</subject><subject>Mitochondrial deletions</subject><subject>Mitochondrial Diseases - blood</subject><subject>Mitochondrial Diseases - genetics</subject><subject>Mitochondrial Diseases - pathology</subject><subject>Molecular Sequence Data</subject><subject>Muscle, Skeletal - pathology</subject><subject>Mutation</subject><subject>RNA, Ribosomal - genetics</subject><subject>Sequence Deletion</subject><issn>0006-291X</issn><issn>1090-2104</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkc2KFDEURoMoTs_oC7iQLN1UeW9SVZ0CGWhanRGGEbQX7kIqdYtOUz9tklLmcXxTU92jS3EVkvt950IOY68QcgSs3h7ypvE2F4AyB8yhkk_YCqGGTCAUT9kKAKpM1Pjtgl2GcABALKr6ObsQUpbrQsCK_drwwUTyo-n7B-7GPXkXqeWtMw1FCtyM6UKmGykEfjTR0Rj5Txf3PO6Jo_jK_Zf7BMmxLMvN9c2psIzu32N6lRLU7nrLhzmm7jQmYAiTdWZZcsIMcx_dsSc-uDjZ_TS23pk-7ezpVHjBnnWmD_Ty8bxiu48fdtvb7O7zzaft5i6zUtUxQ6taUZJpsARBnbEl1ELJddeA7WpsunWaFIWq6hRRVtWiLNYFFsqSaMpSXrE3Z-zRT99nClEPLljqezPSNAeNUkgFqpLyP6JYSKnWUKSoOEetn0Lw1Omjd4PxDxpBLxL1QS8S9SJRA-okMZVeP_LnZqD2b-WPtRR4dw5Q-o8fjrwONnmx1DpPNup2cv_i_waN-qx8</recordid><startdate>20130222</startdate><enddate>20130222</enddate><creator>Mezghani, Najla</creator><creator>Mnif, Mouna</creator><creator>Mkaouar-Rebai, Emna</creator><creator>Kallel, Nozha</creator><creator>Charfi, Nadia</creator><creator>Abid, Mohamed</creator><creator>Fakhfakh, Faiza</creator><general>Elsevier Inc</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>7TM</scope></search><sort><creationdate>20130222</creationdate><title>A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions</title><author>Mezghani, Najla ; Mnif, Mouna ; Mkaouar-Rebai, Emna ; Kallel, Nozha ; Charfi, Nadia ; Abid, Mohamed ; Fakhfakh, Faiza</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c389t-1c8d25eab1502efac5092837fb0cf91bf7b1544869ab18c8925474148ce2b553</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Amino Acid Sequence</topic><topic>Deafness - blood</topic><topic>Deafness - genetics</topic><topic>Deafness - pathology</topic><topic>Diabetes Mellitus, Type 2 - blood</topic><topic>Diabetes Mellitus, Type 2 - genetics</topic><topic>Diabetes Mellitus, Type 2 - pathology</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Humans</topic><topic>Leukocytes - ultrastructure</topic><topic>m.1555A>G</topic><topic>m.3308T>C</topic><topic>Male</topic><topic>MIDD</topic><topic>Mitochondrial deletions</topic><topic>Mitochondrial Diseases - blood</topic><topic>Mitochondrial Diseases - genetics</topic><topic>Mitochondrial Diseases - pathology</topic><topic>Molecular Sequence Data</topic><topic>Muscle, Skeletal - pathology</topic><topic>Mutation</topic><topic>RNA, Ribosomal - genetics</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mezghani, Najla</creatorcontrib><creatorcontrib>Mnif, Mouna</creatorcontrib><creatorcontrib>Mkaouar-Rebai, Emna</creatorcontrib><creatorcontrib>Kallel, Nozha</creatorcontrib><creatorcontrib>Charfi, Nadia</creatorcontrib><creatorcontrib>Abid, Mohamed</creatorcontrib><creatorcontrib>Fakhfakh, Faiza</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>Nucleic Acids Abstracts</collection><jtitle>Biochemical and biophysical research communications</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mezghani, Najla</au><au>Mnif, Mouna</au><au>Mkaouar-Rebai, Emna</au><au>Kallel, Nozha</au><au>Charfi, Nadia</au><au>Abid, Mohamed</au><au>Fakhfakh, Faiza</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions</atitle><jtitle>Biochemical and biophysical research communications</jtitle><addtitle>Biochem Biophys Res Commun</addtitle><date>2013-02-22</date><risdate>2013</risdate><volume>431</volume><issue>4</issue><spage>670</spage><epage>674</epage><pages>670-674</pages><issn>0006-291X</issn><eissn>1090-2104</eissn><abstract>► We report a patient with maternally inherited type 2 diabetes and deafness (MIDD). ► We detected the mitochondrial m.3308T>C and m.1555A>G mutations in muscle and blood. ► We revealed the presence of multiple mitochondrial deletions in the skeletal muscle. ► The deletions remove several tRNA and protein-coding genes.
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial syndrome characterized by the onset of sensorineural hearing loss and diabetes in adults. Some patients may have other additional clinical features common in mitochondrial disorders such as pigmentary retinopathy, ptosis, cardiomyopathy, myopathy and renal affections. We report a 40-year-old Tunisian patient presenting maternally inherited type 2 diabetes and deafness (MIDD). A molecular genetic analysis was conducted in the patient and his twin sister, but no reported mutations in the tRNALeu(UUR) and tRNAGlu genes were found, especially the two mitochondrial m.3243A>G and the m.14709T>C mutations in muscle and blood leukocytes. The results showed the presence of the mitochondrial NADH deshydrogenase 1 (ND1) homoplasmic m.3308T>C mutation the 2 tested tissues (blood leukocytes and skeletal muscle) of the proband and in the patient’s sister blood leukocytes. In addition, we identified the mitochondrial 12S rRNA m.1555A>G mutation in muscle and blood leukocytes. The Long-range PCR amplification revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient’s skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of MIDD in whom we detected the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations with mitochondrial multiple deletions.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>23357420</pmid><doi>10.1016/j.bbrc.2013.01.063</doi><tpages>5</tpages></addata></record> |
fulltext | fulltext |
identifier | ISSN: 0006-291X |
ispartof | Biochemical and biophysical research communications, 2013-02, Vol.431 (4), p.670-674 |
issn | 0006-291X 1090-2104 |
language | eng |
recordid | cdi_proquest_miscellaneous_1323808633 |
source | MEDLINE; Access via ScienceDirect (Elsevier) |
subjects | Adult Amino Acid Sequence Deafness - blood Deafness - genetics Deafness - pathology Diabetes Mellitus, Type 2 - blood Diabetes Mellitus, Type 2 - genetics Diabetes Mellitus, Type 2 - pathology DNA, Mitochondrial - genetics Humans Leukocytes - ultrastructure m.1555A>G m.3308T>C Male MIDD Mitochondrial deletions Mitochondrial Diseases - blood Mitochondrial Diseases - genetics Mitochondrial Diseases - pathology Molecular Sequence Data Muscle, Skeletal - pathology Mutation RNA, Ribosomal - genetics Sequence Deletion |
title | A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-18T12%3A13%3A10IST&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=A%20maternally%20inherited%20diabetes%20and%20deafness%20patient%20with%20the%2012S%20rRNA%20m.1555A%3EG%20and%20the%20ND1%20m.3308T%3EC%20mutations%20associated%20with%20multiple%20mitochondrial%20deletions&rft.jtitle=Biochemical%20and%20biophysical%20research%20communications&rft.au=Mezghani,%20Najla&rft.date=2013-02-22&rft.volume=431&rft.issue=4&rft.spage=670&rft.epage=674&rft.pages=670-674&rft.issn=0006-291X&rft.eissn=1090-2104&rft_id=info:doi/10.1016/j.bbrc.2013.01.063&rft_dat=%3Cproquest_cross%3E1323808633%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=1314338704&rft_id=info:pmid/23357420&rft_els_id=S0006291X13001423&rfr_iscdi=true |