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...

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Veröffentlicht in:Biochemical and biophysical research communications 2013-02, Vol.431 (4), p.670-674
Hauptverfasser: Mezghani, Najla, Mnif, Mouna, Mkaouar-Rebai, Emna, Kallel, Nozha, Charfi, Nadia, Abid, Mohamed, Fakhfakh, Faiza
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container_issue 4
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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.
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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&gt;G and the m.14709T&gt;C mutations in muscle and blood leukocytes. The results showed the presence of the mitochondrial NADH deshydrogenase 1 (ND1) homoplasmic m.3308T&gt;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&gt;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. 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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&gt;G and the m.14709T&gt;C mutations in muscle and blood leukocytes. The results showed the presence of the mitochondrial NADH deshydrogenase 1 (ND1) homoplasmic m.3308T&gt;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&gt;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&gt;G and the ND1 m.3308T&gt;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&gt;G</subject><subject>m.3308T&gt;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&gt;G and the ND1 m.3308T&gt;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&gt;G</topic><topic>m.3308T&gt;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&gt;G and the ND1 m.3308T&gt;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&gt;C and m.1555A&gt;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&gt;G and the m.14709T&gt;C mutations in muscle and blood leukocytes. The results showed the presence of the mitochondrial NADH deshydrogenase 1 (ND1) homoplasmic m.3308T&gt;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&gt;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&gt;G and the ND1 m.3308T&gt;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>
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ispartof Biochemical and biophysical research communications, 2013-02, Vol.431 (4), p.670-674
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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
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