Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy
Identifieur interne : 002196 ( PascalFrancis/Checkpoint ); précédent : 002195; suivant : 002197Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy
Auteurs : Michael D. Brown [États-Unis] ; Seyed Hosseini [États-Unis] ; Israel Steiner [Israël] ; Douglas C. Wallace [États-Unis] ; Isabelle Korn-Lubetzki [Israël]Source :
- Movement disorders [ 0885-3185 ] ; 2004.
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Abstract
The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNAGly mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.
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Brown</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Division of Basic Medical Sciences, Mercer University School of Medicine</s1><s2>Macon, Georgia</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Hosseini, Seyed" sort="Hosseini, Seyed" uniqKey="Hosseini S" first="Seyed" last="Hosseini">Seyed Hosseini</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Pathology, Emory University School of Medicine</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Steiner, Israel" sort="Steiner, Israel" uniqKey="Steiner I" first="Israel" last="Steiner">Israel Steiner</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Hadassah University Hospital</s1><s2>Jersusalem</s2><s3>ISR</s3><sZ>3 aut.</sZ></inist:fA14><country>Israël</country><wicri:noRegion>Jersusalem</wicri:noRegion></affiliation></author><author><name sortKey="Wallace, Douglas C" sort="Wallace, Douglas C" uniqKey="Wallace D" first="Douglas C." last="Wallace">Douglas C. 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Brown</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Division of Basic Medical Sciences, Mercer University School of Medicine</s1><s2>Macon, Georgia</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Hosseini, Seyed" sort="Hosseini, Seyed" uniqKey="Hosseini S" first="Seyed" last="Hosseini">Seyed Hosseini</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Pathology, Emory University School of Medicine</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Steiner, Israel" sort="Steiner, Israel" uniqKey="Steiner I" first="Israel" last="Steiner">Israel Steiner</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Hadassah University Hospital</s1><s2>Jersusalem</s2><s3>ISR</s3><sZ>3 aut.</sZ></inist:fA14><country>Israël</country><wicri:noRegion>Jersusalem</wicri:noRegion></affiliation></author><author><name sortKey="Wallace, Douglas C" sort="Wallace, Douglas C" uniqKey="Wallace D" first="Douglas C." last="Wallace">Douglas C. Wallace</name><affiliation wicri:level="2"><inist:fA14 i1="04"><s1>MAMMAG, University of California Irvine</s1><s2>Irvine, California</s2><s3>USA</s3><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Korn Lubetzki, Isabelle" sort="Korn Lubetzki, Isabelle" uniqKey="Korn Lubetzki I" first="Isabelle" last="Korn-Lubetzki">Isabelle Korn-Lubetzki</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Neurological Service, Bikur Cholim Hospital</s1><s2>Jerusalem</s2><s3>ISR</s3><sZ>5 aut.</sZ></inist:fA14><country>Israël</country><wicri:noRegion>Jerusalem</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2004">2004</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term><term>Mitochondrial DNA</term><term>Nervous system diseases</term><term>Nucleotide sequence</term><term>Optic ataxia</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>DNA mitochondrial</term><term>Séquence nucléotide</term><term>Ataxie optique</term><term>Système nerveux pathologie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNA<sup>Gly</sup> mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>19</s2></fA05><fA06><s2>2</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy</s1></fA08><fA11 i1="01" i2="1"><s1>BROWN (Michael D.)</s1></fA11><fA11 i1="02" i2="1"><s1>HOSSEINI (Seyed)</s1></fA11><fA11 i1="03" i2="1"><s1>STEINER (Israel)</s1></fA11><fA11 i1="04" i2="1"><s1>WALLACE (Douglas C.)</s1></fA11><fA11 i1="05" i2="1"><s1>KORN-LUBETZKI (Isabelle)</s1></fA11><fA14 i1="01"><s1>Division of Basic Medical Sciences, Mercer University School of Medicine</s1><s2>Macon, Georgia</s2><s3>USA</s3><sZ>1 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Pathology, Emory University School of Medicine</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>2 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, Hadassah University Hospital</s1><s2>Jersusalem</s2><s3>ISR</s3><sZ>3 aut.</sZ></fA14><fA14 i1="04"><s1>MAMMAG, University of California Irvine</s1><s2>Irvine, California</s2><s3>USA</s3><sZ>4 aut.</sZ></fA14><fA14 i1="05"><s1>Neurological Service, Bikur Cholim Hospital</s1><s2>Jerusalem</s2><s3>ISR</s3><sZ>5 aut.</sZ></fA14><fA20><s1>235-237</s1></fA20><fA21><s1>2004</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000119281330200</s5></fA43><fA44><s0>0000</s0><s1>© 2004 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>10 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>04-0365464</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNA<sup>Gly</sup> mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Dystonie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Dystonia</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Distonía</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>DNA mitochondrial</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Mitochondrial DNA</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>DNA mitocondrial</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Séquence nucléotide</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Nucleotide sequence</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Secuencia nucleótido</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Ataxie optique</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Optic ataxia</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Ataxia óptica</s0><s5>04</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>07</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>07</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>07</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Muscle strié pathologie</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>41</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Oeil pathologie</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Eye disease</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Ojo patología</s0><s5>42</s5></fC07><fC07 i1="07" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>43</s5></fC07><fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>43</s5></fC07><fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>43</s5></fC07><fN21><s1>208</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Israël</li><li>États-Unis</li></country><region><li>Californie</li><li>Géorgie (États-Unis)</li></region></list><tree><country name="États-Unis"><region name="Géorgie (États-Unis)"><name sortKey="Brown, Michael D" sort="Brown, Michael D" uniqKey="Brown M" first="Michael D." last="Brown">Michael D. Brown</name></region><name sortKey="Hosseini, Seyed" sort="Hosseini, Seyed" uniqKey="Hosseini S" first="Seyed" last="Hosseini">Seyed Hosseini</name><name sortKey="Wallace, Douglas C" sort="Wallace, Douglas C" uniqKey="Wallace D" first="Douglas C." last="Wallace">Douglas C. Wallace</name></country><country name="Israël"><noRegion><name sortKey="Steiner, Israel" sort="Steiner, Israel" uniqKey="Steiner I" first="Israel" last="Steiner">Israel Steiner</name></noRegion><name sortKey="Korn Lubetzki, Isabelle" sort="Korn Lubetzki, Isabelle" uniqKey="Korn Lubetzki I" first="Isabelle" last="Korn-Lubetzki">Isabelle Korn-Lubetzki</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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