Sepiapterin reductase expression is increased in Parkinson's disease brain tissue
Identifieur interne : 000756 ( PascalFrancis/Corpus ); précédent : 000755; suivant : 000757Sepiapterin reductase expression is increased in Parkinson's disease brain tissue
Auteurs : Jennifer E. Tobin ; JING CUI ; Jemma B. Wilk ; Jeanne C. Latourelle ; Jason M. Laramie ; Ann C. Mckee ; Mark Guttman ; Samer Karamohamed ; Anita L. Destefano ; Richard H. MyersSource :
- Brain research [ 0006-8993 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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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Format Inist (serveur)
NO : | PASCAL 07-0204910 INIST |
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ET : | Sepiapterin reductase expression is increased in Parkinson's disease brain tissue |
AU : | TOBIN (Jennifer E.); JING CUI; WILK (Jemma B.); LATOURELLE (Jeanne C.); LARAMIE (Jason M.); MCKEE (Ann C.); GUTTMAN (Mark); KARAMOHAMED (Samer); DESTEFANO (Anita L.); MYERS (Richard H.) |
AF : | Department of Anatomy and Neurobiology, Boston University School of Medicine/Boston, MA/Etats-Unis (1 aut.); Department of Neurology, Boston University School of Medicine/Boston, MA/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 8 aut., 9 aut., 10 aut.); Department of Bioinformatics, Boston University/Boston, MA/Etats-Unis (5 aut.); Department of Pathology, Boston University School of Medicine/Boston, MA/Etats-Unis (6 aut.); ENR VA Medical Center/Bedford, MA/Etats-Unis (6 aut.); Department of Medicine, University of Toronto/Toronto/Canada (7 aut.); Department of Biostatistics, Boston University School of Public Health/Boston, MA/Etats-Unis (9 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Brain research; ISSN 0006-8993; Coden BRREAP; Pays-Bas; Da. 2007; Vol. 1139; Pp. 42-47; Bibl. 1 p.1/4 |
LA : | Anglais |
EA : | 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. |
CC : | 002B17G; 002B18C13 |
FD : | Sepiapterin reductase; Réaction chaîne polymérase; Bioptérine(tétrahydro); Parkinson maladie; Homme; Expression génique |
FG : | Oxidoreductases; Enzyme; Encéphale pathologie; Maladie dégénérative; Système nerveux pathologie; Extrapyramidal syndrome; Système nerveux central pathologie |
ED : | Sepiapterin reductase; Polymerase chain reaction; Tetrahydrobiopterin; Parkinson disease; Human; Gene expression |
EG : | Oxidoreductases; Enzyme; Cerebral disorder; Degenerative disease; Nervous system diseases; Extrapyramidal syndrome; Central nervous system disease |
SD : | Sepiapterin reductase; Reacción cadena polimerasa; Parkinson enfermedad; Hombre; Expresión genética |
LO : | INIST-12895.354000145613940060 |
ID : | 07-0204910 |
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Pascal:07-0204910Le document en format XML
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<series><title level="j" type="main">Brain research</title>
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<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>
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<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>
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<fA03 i2="1"><s0>Brain res.</s0>
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<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>
<server><NO>PASCAL 07-0204910 INIST</NO>
<ET>Sepiapterin reductase expression is increased in Parkinson's disease brain tissue</ET>
<AU>TOBIN (Jennifer E.); JING CUI; WILK (Jemma B.); LATOURELLE (Jeanne C.); LARAMIE (Jason M.); MCKEE (Ann C.); GUTTMAN (Mark); KARAMOHAMED (Samer); DESTEFANO (Anita L.); MYERS (Richard H.)</AU>
<AF>Department of Anatomy and Neurobiology, Boston University School of Medicine/Boston, MA/Etats-Unis (1 aut.); Department of Neurology, Boston University School of Medicine/Boston, MA/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 6 aut., 8 aut., 9 aut., 10 aut.); Department of Bioinformatics, Boston University/Boston, MA/Etats-Unis (5 aut.); Department of Pathology, Boston University School of Medicine/Boston, MA/Etats-Unis (6 aut.); ENR VA Medical Center/Bedford, MA/Etats-Unis (6 aut.); Department of Medicine, University of Toronto/Toronto/Canada (7 aut.); Department of Biostatistics, Boston University School of Public Health/Boston, MA/Etats-Unis (9 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Brain research; ISSN 0006-8993; Coden BRREAP; Pays-Bas; Da. 2007; Vol. 1139; Pp. 42-47; Bibl. 1 p.1/4</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17G; 002B18C13</CC>
<FD>Sepiapterin reductase; Réaction chaîne polymérase; Bioptérine(tétrahydro); Parkinson maladie; Homme; Expression génique</FD>
<FG>Oxidoreductases; Enzyme; Encéphale pathologie; Maladie dégénérative; Système nerveux pathologie; Extrapyramidal syndrome; Système nerveux central pathologie</FG>
<ED>Sepiapterin reductase; Polymerase chain reaction; Tetrahydrobiopterin; Parkinson disease; Human; Gene expression</ED>
<EG>Oxidoreductases; Enzyme; Cerebral disorder; Degenerative disease; Nervous system diseases; Extrapyramidal syndrome; Central nervous system disease</EG>
<SD>Sepiapterin reductase; Reacción cadena polimerasa; Parkinson enfermedad; Hombre; Expresión genética</SD>
<LO>INIST-12895.354000145613940060</LO>
<ID>07-0204910</ID>
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