PRKN, DJ‐1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ‐1 mutations
Identifieur interne : 000212 ( Main/Exploration ); précédent : 000211; suivant : 000213PRKN, DJ‐1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ‐1 mutations
Auteurs : Farzaneh Ghazavi [Iran] ; Zeinab Fazlali [Iran] ; Setareh Sadat Banihosseini [Iran] ; Sayed-Rzgar Hosseini [Iran] ; Mohammad Hossein Kazemi [Iran] ; Seyedmehdi Shojaee [Iran] ; Khosro Parsa [Iran] ; Homa Sadeghi [Iran] ; Farzad Sina [Iran] ; Mohammad Rohani [Iran] ; Gholam-Ali Shahidi [Iran] ; Nasser Ghaemi [Iran] ; Mostafa Ronaghi [États-Unis] ; Elahe Elahi [Iran]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-01.
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Abstract
We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi‐quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription‐polymerase chain reaction (RT‐PCR). Nine different PRKN mutations were found. One of these, IVS9+1G>A, affects splicing and is novel. Two mutated PRKN alleles were observed in each of 6 patients whose average AAO was 25.7 years. Only 1 patient carried a single mutated allele and his AAO was 41 years. Among patients with AAO of <30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a PRKN mutation. Analysis of PRKN by RT‐PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. DJ‐I and PINK1 were also screened. Two novel DJ‐1 mutations, c.91−2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of <31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in DJ‐1. Mutations in PINK1 were not observed. Our results complement previous findings on LRRK2 mutations among Iranian PD patients. © 2010 Movement Disorder Society.
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DOI: 10.1002/mds.23417
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novel DJ‐1 mutations</title><author><name sortKey="Ghazavi, Farzaneh" sort="Ghazavi, Farzaneh" uniqKey="Ghazavi F" first="Farzaneh" last="Ghazavi">Farzaneh Ghazavi</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Fazlali, Zeinab" sort="Fazlali, Zeinab" uniqKey="Fazlali Z" first="Zeinab" last="Fazlali">Zeinab Fazlali</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Banihosseini, Setareh Sadat" sort="Banihosseini, Setareh Sadat" uniqKey="Banihosseini S" first="Setareh Sadat" 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Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Shojaee, Seyedmehdi" sort="Shojaee, Seyedmehdi" uniqKey="Shojaee S" first="Seyedmehdi" last="Shojaee">Seyedmehdi Shojaee</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Biotechnology, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Parsa, Khosro" sort="Parsa, Khosro" uniqKey="Parsa K" first="Khosro" last="Parsa">Khosro Parsa</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Sadeghi, Homa" sort="Sadeghi, Homa" uniqKey="Sadeghi H" first="Homa" last="Sadeghi">Homa Sadeghi</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Neurosurgery, Shohada Hospital, Shahid Beheshti University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Sina, Farzad" sort="Sina, Farzad" uniqKey="Sina F" first="Farzad" last="Sina">Farzad Sina</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Rohani, Mohammad" sort="Rohani, Mohammad" uniqKey="Rohani M" first="Mohammad" last="Rohani">Mohammad Rohani</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Shahidi, Gholam Li" sort="Shahidi, Gholam Li" uniqKey="Shahidi G" first="Gholam-Ali" last="Shahidi">Gholam-Ali Shahidi</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Ghaemi, Nasser" sort="Ghaemi, Nasser" uniqKey="Ghaemi N" first="Nasser" last="Ghaemi">Nasser Ghaemi</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Biotechnology, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Ronaghi, Mostafa" sort="Ronaghi, Mostafa" uniqKey="Ronaghi M" first="Mostafa" last="Ronaghi">Mostafa Ronaghi</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Illumina Inc., San Diego, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Department of Biotechnology, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-01">2011-01</date><biblScope unit="volume">26</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="80">80</biblScope><biblScope unit="page" to="89">89</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">5095024BBCADF11BED09EDC7231209D265722FE0</idno><idno type="DOI">10.1002/mds.23417</idno><idno type="ArticleID">MDS23417</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DJ‐1</term><term>PINK1</term><term>PRKN</term><term>Parkinson's disease</term><term>alternative spicing</term><term>mutations</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We present results of mutation screening of PRKN gene in 93 Iranian Parkinson's disease (PD) patients with average age at onset (AAO) of 42.2 years. The gene was screened by direct sequencing and by a semi‐quantitative PCR protocol for detection of sequence rearrangements. Heterozygous rearrangements were tested by reverse transcription‐polymerase chain reaction (RT‐PCR). Nine different PRKN mutations were found. One of these, IVS9+1G>A, affects splicing and is novel. Two mutated PRKN alleles were observed in each of 6 patients whose average AAO was 25.7 years. Only 1 patient carried a single mutated allele and his AAO was 41 years. Among patients with AAO of <30 years, 31.3% had two mutated alleles, while only 2.6% with AAO of >30 years carried a PRKN mutation. Analysis of PRKN by RT‐PCR led to identification of a novel exon expressed in leukocytes of control and PD individuals. The alternatively spliced transcript if translated would code a protein without a RING Finger 2 domain. Its functional relevance remains to be shown. DJ‐I and PINK1 were also screened. Two novel DJ‐1 mutations, c.91−2A>G affecting splicing and c.319G>C causing Ala107Pro, were observed among patients with AAO of <31 years, suggesting that PD in a high fraction (>12%) of this group of Iranian patients may be due to mutations in DJ‐1. Mutations in PINK1 were not observed. Our results complement previous findings on LRRK2 mutations among Iranian PD patients. © 2010 Movement Disorder Society.</div></front></TEI><affiliations><list><country><li>Iran</li><li>États-Unis</li></country><region><li>Californie</li></region></list><tree><country name="Iran"><noRegion><name sortKey="Ghazavi, Farzaneh" sort="Ghazavi, Farzaneh" uniqKey="Ghazavi F" first="Farzaneh" last="Ghazavi">Farzaneh Ghazavi</name></noRegion><name sortKey="Banihosseini, Setareh Sadat" sort="Banihosseini, Setareh Sadat" uniqKey="Banihosseini S" first="Setareh Sadat" last="Banihosseini">Setareh Sadat Banihosseini</name><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><name sortKey="Elahi, Elahe" sort="Elahi, Elahe" uniqKey="Elahi E" first="Elahe" last="Elahi">Elahe Elahi</name><name sortKey="Fazlali, Zeinab" sort="Fazlali, Zeinab" uniqKey="Fazlali Z" first="Zeinab" last="Fazlali">Zeinab Fazlali</name><name sortKey="Ghaemi, Nasser" sort="Ghaemi, Nasser" uniqKey="Ghaemi N" first="Nasser" last="Ghaemi">Nasser Ghaemi</name><name sortKey="Hosseini, Sayed Zgar" sort="Hosseini, Sayed Zgar" uniqKey="Hosseini S" first="Sayed-Rzgar" last="Hosseini">Sayed-Rzgar Hosseini</name><name sortKey="Kazemi, Mohammad Hossein" sort="Kazemi, Mohammad Hossein" uniqKey="Kazemi M" first="Mohammad Hossein" last="Kazemi">Mohammad Hossein Kazemi</name><name sortKey="Parsa, Khosro" sort="Parsa, Khosro" uniqKey="Parsa K" first="Khosro" last="Parsa">Khosro Parsa</name><name sortKey="Rohani, Mohammad" sort="Rohani, Mohammad" uniqKey="Rohani M" first="Mohammad" last="Rohani">Mohammad Rohani</name><name sortKey="Sadeghi, Homa" sort="Sadeghi, Homa" uniqKey="Sadeghi H" first="Homa" last="Sadeghi">Homa Sadeghi</name><name sortKey="Shahidi, Gholam Li" sort="Shahidi, Gholam Li" uniqKey="Shahidi G" first="Gholam-Ali" last="Shahidi">Gholam-Ali Shahidi</name><name sortKey="Shojaee, Seyedmehdi" sort="Shojaee, Seyedmehdi" uniqKey="Shojaee S" first="Seyedmehdi" last="Shojaee">Seyedmehdi Shojaee</name><name sortKey="Sina, Farzad" sort="Sina, Farzad" uniqKey="Sina F" first="Farzad" last="Sina">Farzad Sina</name></country><country name="États-Unis"><region name="Californie"><name sortKey="Ronaghi, Mostafa" sort="Ronaghi, Mostafa" uniqKey="Ronaghi M" first="Mostafa" last="Ronaghi">Mostafa Ronaghi</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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