Sepiapterin reductase expression is increased in Parkinson's disease brain tissue
Identifieur interne : 000564 ( PascalFrancis/Curation ); précédent : 000563; suivant : 000565Sepiapterin reductase expression is increased in Parkinson's disease brain tissue
Auteurs : Jennifer E. Tobin [États-Unis] ; JING CUI [États-Unis] ; Jemma B. Wilk [États-Unis] ; Jeanne C. Latourelle [États-Unis] ; Jason M. Laramie [États-Unis] ; Ann C. Mckee [États-Unis] ; Mark Guttman [Canada] ; Samer Karamohamed [États-Unis] ; Anita L. Destefano [États-Unis] ; Richard H. Myers [États-Unis]Source :
- Brain research [ 0006-8993 ] ; 2007.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
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Abstract
The PARK3 locus on chromosome 2pl3 has shown linkage to both the development and age of onset of Parkinson's disease (PD). One candidate gene at this locus is sepiapterin reductase (SPR). Sepiapterin reductase catalyzes the final step in the biosynthetic pathway of tetrahydrobiopterin (BH4), an essential cofactor for aromatic amino acid hydrolases including tyrosine hydroxylase, the rate-limiting enzyme in dopamine synthesis. The expression of SPR was assayed using semiquantitative real-time RT-PCR in human post-mortem cerebellar tissue from neuropathologically confirmed PD cases and neurologically normal controls. The expression of other enzymes involved in BH4 biosynthesis, including aldose reductase (AKR1B1), carbonyl reductase (CBR1 and CBR3), GTP-cyclohydrolase I (GCH1), and 6-pyruvoyltetrahydrobiopterin (PTS), was also examined. Single-nucleotide polymorphisms around the SPR gene that have been previously reported to show association to PD affection and onset age were genotyped in these samples. Expression of SPR showed a significant 4-fold increase in PD cases relative to controls, while the expression of AKR1B1 and PTS was significantly decreased in PD cases. No difference in expression was detected for CBR1, CBR3, and GCH1. Genetic variants did not show a significant effect on SPR expression, however, this is likely due to the low frequency of rare genotypes in the sample. While the association of SPR to PD is not strong enough to support that this is the PARK3 gene, this study further implicates a role for SPR in idiopathic PD.
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Myers</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0204910</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0204910 INIST</idno><idno type="RBID">Pascal:07-0204910</idno><idno type="wicri:Area/PascalFrancis/Corpus">000756</idno><idno type="wicri:Area/PascalFrancis/Curation">000564</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Sepiapterin reductase expression is increased in Parkinson's disease brain tissue</title><author><name sortKey="Tobin, Jennifer E" sort="Tobin, Jennifer E" uniqKey="Tobin J" first="Jennifer E." last="Tobin">Jennifer E. Tobin</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Anatomy and Neurobiology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Jing Cui" sort="Jing Cui" uniqKey="Jing Cui" last="Jing Cui">JING CUI</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Wilk, Jemma B" sort="Wilk, Jemma B" uniqKey="Wilk J" first="Jemma B." last="Wilk">Jemma B. Wilk</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Latourelle, Jeanne C" sort="Latourelle, Jeanne C" uniqKey="Latourelle J" first="Jeanne C." last="Latourelle">Jeanne C. Latourelle</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Laramie, Jason M" sort="Laramie, Jason M" uniqKey="Laramie J" first="Jason M." last="Laramie">Jason M. Laramie</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Bioinformatics, Boston University</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Mckee, Ann C" sort="Mckee, Ann C" uniqKey="Mckee A" first="Ann C." last="Mckee">Ann C. Mckee</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Pathology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>ENR VA Medical Center</s1><s2>Bedford, MA</s2><s3>USA</s3><sZ>6 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Guttman, Mark" sort="Guttman, Mark" uniqKey="Guttman M" first="Mark" last="Guttman">Mark Guttman</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Medicine, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>7 aut.</sZ></inist:fA14><country>Canada</country></affiliation></author><author><name sortKey="Karamohamed, Samer" sort="Karamohamed, Samer" uniqKey="Karamohamed S" first="Samer" last="Karamohamed">Samer Karamohamed</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Destefano, Anita L" sort="Destefano, Anita L" uniqKey="Destefano A" first="Anita L." last="Destefano">Anita L. Destefano</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Biostatistics, Boston University School of Public Health</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Myers, Richard H" sort="Myers, Richard H" uniqKey="Myers R" first="Richard H." last="Myers">Richard H. Myers</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author></analytic><series><title level="j" type="main">Brain research</title><title level="j" type="abbreviated">Brain res.</title><idno type="ISSN">0006-8993</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Brain research</title><title level="j" type="abbreviated">Brain res.</title><idno type="ISSN">0006-8993</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gene expression</term><term>Human</term><term>Parkinson disease</term><term>Polymerase chain reaction</term><term>Sepiapterin reductase</term><term>Tetrahydrobiopterin</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Sepiapterin reductase</term><term>Réaction chaîne polymérase</term><term>Bioptérine(tétrahydro)</term><term>Parkinson maladie</term><term>Homme</term><term>Expression génique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The PARK3 locus on chromosome 2pl3 has shown linkage to both the development and age of onset of Parkinson's disease (PD). One candidate gene at this locus is sepiapterin reductase (SPR). Sepiapterin reductase catalyzes the final step in the biosynthetic pathway of tetrahydrobiopterin (BH<sub>4</sub>), an essential cofactor for aromatic amino acid hydrolases including tyrosine hydroxylase, the rate-limiting enzyme in dopamine synthesis. The expression of SPR was assayed using semiquantitative real-time RT-PCR in human post-mortem cerebellar tissue from neuropathologically confirmed PD cases and neurologically normal controls. The expression of other enzymes involved in BH<sub>4</sub> biosynthesis, including aldose reductase (AKR1B1), carbonyl reductase (CBR1 and CBR3), GTP-cyclohydrolase I (GCH1), and 6-pyruvoyltetrahydrobiopterin (PTS), was also examined. Single-nucleotide polymorphisms around the SPR gene that have been previously reported to show association to PD affection and onset age were genotyped in these samples. Expression of SPR showed a significant 4-fold increase in PD cases relative to controls, while the expression of AKR1B1 and PTS was significantly decreased in PD cases. No difference in expression was detected for CBR1, CBR3, and GCH1. Genetic variants did not show a significant effect on SPR expression, however, this is likely due to the low frequency of rare genotypes in the sample. While the association of SPR to PD is not strong enough to support that this is the PARK3 gene, this study further implicates a role for SPR in idiopathic PD.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0006-8993</s0></fA01><fA02 i1="01"><s0>BRREAP</s0></fA02><fA03 i2="1"><s0>Brain res.</s0></fA03><fA05><s2>1139</s2></fA05><fA08 i1="01" i2="1" l="ENG"><s1>Sepiapterin reductase expression is increased in Parkinson's disease brain tissue</s1></fA08><fA11 i1="01" i2="1"><s1>TOBIN (Jennifer E.)</s1></fA11><fA11 i1="02" i2="1"><s1>JING CUI</s1></fA11><fA11 i1="03" i2="1"><s1>WILK (Jemma B.)</s1></fA11><fA11 i1="04" i2="1"><s1>LATOURELLE (Jeanne C.)</s1></fA11><fA11 i1="05" i2="1"><s1>LARAMIE (Jason M.)</s1></fA11><fA11 i1="06" i2="1"><s1>MCKEE (Ann C.)</s1></fA11><fA11 i1="07" i2="1"><s1>GUTTMAN (Mark)</s1></fA11><fA11 i1="08" i2="1"><s1>KARAMOHAMED (Samer)</s1></fA11><fA11 i1="09" i2="1"><s1>DESTEFANO (Anita L.)</s1></fA11><fA11 i1="10" i2="1"><s1>MYERS (Richard H.)</s1></fA11><fA14 i1="01"><s1>Department of Anatomy and Neurobiology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Bioinformatics, Boston University</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>5 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Pathology, Boston University School of Medicine</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>6 aut.</sZ></fA14><fA14 i1="05"><s1>ENR VA Medical Center</s1><s2>Bedford, MA</s2><s3>USA</s3><sZ>6 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Medicine, University of Toronto</s1><s2>Toronto</s2><s3>CAN</s3><sZ>7 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Biostatistics, Boston University School of Public Health</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>9 aut.</sZ></fA14><fA20><s1>42-47</s1></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>12895</s2><s5>354000145613940060</s5></fA43><fA44><s0>0000</s0><s1>© 2007 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>1 p.1/4</s0></fA45><fA47 i1="01" i2="1"><s0>07-0204910</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Brain research</s0></fA64><fA66 i1="01"><s0>NLD</s0></fA66><fC01 i1="01" l="ENG"><s0>The PARK3 locus on chromosome 2pl3 has shown linkage to both the development and age of onset of Parkinson's disease (PD). One candidate gene at this locus is sepiapterin reductase (SPR). Sepiapterin reductase catalyzes the final step in the biosynthetic pathway of tetrahydrobiopterin (BH<sub>4</sub>), an essential cofactor for aromatic amino acid hydrolases including tyrosine hydroxylase, the rate-limiting enzyme in dopamine synthesis. The expression of SPR was assayed using semiquantitative real-time RT-PCR in human post-mortem cerebellar tissue from neuropathologically confirmed PD cases and neurologically normal controls. The expression of other enzymes involved in BH<sub>4</sub> biosynthesis, including aldose reductase (AKR1B1), carbonyl reductase (CBR1 and CBR3), GTP-cyclohydrolase I (GCH1), and 6-pyruvoyltetrahydrobiopterin (PTS), was also examined. Single-nucleotide polymorphisms around the SPR gene that have been previously reported to show association to PD affection and onset age were genotyped in these samples. Expression of SPR showed a significant 4-fold increase in PD cases relative to controls, while the expression of AKR1B1 and PTS was significantly decreased in PD cases. No difference in expression was detected for CBR1, CBR3, and GCH1. Genetic variants did not show a significant effect on SPR expression, however, this is likely due to the low frequency of rare genotypes in the sample. While the association of SPR to PD is not strong enough to support that this is the PARK3 gene, this study further implicates a role for SPR in idiopathic PD.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17G</s0></fC02><fC02 i1="02" i2="X"><s0>002B18C13</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Sepiapterin reductase</s0><s2>FE</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Sepiapterin reductase</s0><s2>FE</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sepiapterin reductase</s0><s2>FE</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Réaction chaîne polymérase</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Polymerase chain reaction</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Reacción cadena polimerasa</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Bioptérine(tétrahydro)</s0><s2>NK</s2><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Tetrahydrobiopterin</s0><s2>NK</s2><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Parkinson maladie</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Parkinson disease</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s5>09</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Homme</s0><s5>54</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Human</s0><s5>54</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Hombre</s0><s5>54</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Expression génique</s0><s5>57</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Gene expression</s0><s5>57</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Expresión genética</s0><s5>57</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Oxidoreductases</s0><s2>FE</s2></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Oxidoreductases</s0><s2>FE</s2></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Oxidoreductases</s0><s2>FE</s2></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Enzyme</s0><s2>FE</s2></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Enzyme</s0><s2>FE</s2></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Enzima</s0><s2>FE</s2></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>20</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>20</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>20</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>21</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>21</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>21</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>22</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>22</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>22</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0><s5>23</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>23</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>23</s5></fC07><fC07 i1="07" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>24</s5></fC07><fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>24</s5></fC07><fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>24</s5></fC07><fN21><s1>141</s1></fN21></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Sepiapterin reductase expression is increased in Parkinson's disease brain tissue
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