Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegeneration
Identifieur interne : 000708 ( Hal/Curation ); précédent : 000707; suivant : 000709Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegeneration
Auteurs : Silvia Carolina Lenzken [Italie] ; Valentina Romeo [Italie] ; Francesca Zolezzi [Italie] ; Francesca Cordero [Italie] ; Giuseppe Lamorte [Italie] ; Davide Bonanno [Italie] ; Donatella Biancolini [Italie] ; Mauro Cozzolino [Italie] ; Maria Grazia Pesaresi [Italie] ; Alessia Maracchioni [Italie] ; Remo Sanges [Italie] ; Tilmann Achsel [Italie] ; Maria Teresa Carrì [Italie] ; Raffaele Calogero [Italie] ; Silvia Ml Barabino [Italie]Source :
- Human Mutation [ 1059-7794 ] ; 2011-01-25.
Descripteurs français
- mix :
Abstract
Mitochondrial dysfunction has been implicated in the pathogenesis of a number of neurodegenerative disorders including Parkinson, Alzheimer and Amyotrophic Lateral Sclerosis (ALS). In addition, aberrant mRNA splicing has been documented in neurodegeneration. To characterize the cellular response to mitochondrial perturbations at the level of gene expression and alternative pre-mRNA splicing we used splicing-sensitive microarrays to profile human neuroblastoma SH-SY5Y cells treated with paraquat, a neurotoxic herbicide that induces the formation of reactive oxygen species and causes mitochondrial damage in animal models, and SH-SY5Y cells stably expressing the mutant G93A-SOD1 protein, one of the genetic causes of ALS. In both models we identified a common set of genes whose expression and alternative splicing are deregulated. Pathway analysis of the deregulated genes revealed enrichment in genes involved in neuritogenesis, axon growth and guidance, and synaptogenesis. Alterations in transcription and pre-mRNA splicing of candidate genes were confirmed experimentally in the cell line models as well as in brain and spinal cord of transgenic mice carrying the G93A-SOD1 mutation. Our findings expand the realm of the pathways implicated in neurodegeneration and suggest that alterations of axonal function may descend directly from mitochondrial damage.
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DOI: 10.1002/humu.21394
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<author><name sortKey="Carri, Maria Teresa" sort="Carri, Maria Teresa" uniqKey="Carri M" first="Maria Teresa" last="Carrì">Maria Teresa Carrì</name>
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<author><name sortKey="Calogero, Raffaele" sort="Calogero, Raffaele" uniqKey="Calogero R" first="Raffaele" last="Calogero">Raffaele Calogero</name>
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<author><name sortKey="Barabino, Silvia Ml" sort="Barabino, Silvia Ml" uniqKey="Barabino S" first="Silvia Ml" last="Barabino">Silvia Ml Barabino</name>
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<idno type="DOI">10.1002/humu.21394</idno>
<series><title level="j">Human Mutation</title>
<idno type="ISSN">1059-7794</idno>
<imprint><date type="datePub">2011-01-25</date>
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<front><div type="abstract" xml:lang="en">Mitochondrial dysfunction has been implicated in the pathogenesis of a number of neurodegenerative disorders including Parkinson, Alzheimer and Amyotrophic Lateral Sclerosis (ALS). In addition, aberrant mRNA splicing has been documented in neurodegeneration. To characterize the cellular response to mitochondrial perturbations at the level of gene expression and alternative pre-mRNA splicing we used splicing-sensitive microarrays to profile human neuroblastoma SH-SY5Y cells treated with paraquat, a neurotoxic herbicide that induces the formation of reactive oxygen species and causes mitochondrial damage in animal models, and SH-SY5Y cells stably expressing the mutant G93A-SOD1 protein, one of the genetic causes of ALS. In both models we identified a common set of genes whose expression and alternative splicing are deregulated. Pathway analysis of the deregulated genes revealed enrichment in genes involved in neuritogenesis, axon growth and guidance, and synaptogenesis. Alterations in transcription and pre-mRNA splicing of candidate genes were confirmed experimentally in the cell line models as well as in brain and spinal cord of transgenic mice carrying the G93A-SOD1 mutation. Our findings expand the realm of the pathways implicated in neurodegeneration and suggest that alterations of axonal function may descend directly from mitochondrial damage.</div>
</front>
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<author role="aut"> <persName> <forename type="first">Maria Grazia</forename>
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<author role="crp"> <persName> <forename type="first">Silvia ML</forename>
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<author role="aut"> <persName> <forename type="first">Maria Grazia</forename>
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<author role="aut"> <persName> <forename type="first">Maria Teresa</forename>
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<author role="aut"> <persName> <forename type="first">Raffaele</forename>
<surname>Calogero</surname>
</persName>
<email type="md5">42c8d8d5687be206c62570f0aab03157</email>
<email type="domain">unito.it</email>
<idno type="halauthorid">628583</idno>
<affiliation ref="#struct-162693"></affiliation>
</author>
<author role="crp"> <persName> <forename type="first">Silvia ML</forename>
<surname>Barabino</surname>
</persName>
<email type="md5">1c6c9231c88681078a817a275ec3d27b</email>
<email type="domain">unimib.it</email>
<idno type="halauthorid">628584</idno>
<affiliation ref="#struct-162699"></affiliation>
</author>
</analytic>
<monogr> <idno type="halJournalId" status="VALID">13960</idno>
<idno type="issn">1059-7794</idno>
<idno type="eissn">1098-1004</idno>
<title level="j">Human Mutation</title>
<imprint> <publisher>Wiley</publisher>
<biblScope unit="volume">32</biblScope>
<biblScope unit="issue">2</biblScope>
<biblScope unit="pp">168</biblScope>
<date type="datePub">2011-01-25</date>
</imprint>
</monogr>
<idno type="doi">10.1002/humu.21394</idno>
</biblStruct>
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<profileDesc> <langUsage> <language ident="en">English</language>
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<textClass> <keywords scheme="author"> <term xml:lang="fr">Life Sciences</term>
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<classCode scheme="halTypology" n="ART">Journal articles</classCode>
</textClass>
<abstract xml:lang="en">Mitochondrial dysfunction has been implicated in the pathogenesis of a number of neurodegenerative disorders including Parkinson, Alzheimer and Amyotrophic Lateral Sclerosis (ALS). In addition, aberrant mRNA splicing has been documented in neurodegeneration. To characterize the cellular response to mitochondrial perturbations at the level of gene expression and alternative pre-mRNA splicing we used splicing-sensitive microarrays to profile human neuroblastoma SH-SY5Y cells treated with paraquat, a neurotoxic herbicide that induces the formation of reactive oxygen species and causes mitochondrial damage in animal models, and SH-SY5Y cells stably expressing the mutant G93A-SOD1 protein, one of the genetic causes of ALS. In both models we identified a common set of genes whose expression and alternative splicing are deregulated. Pathway analysis of the deregulated genes revealed enrichment in genes involved in neuritogenesis, axon growth and guidance, and synaptogenesis. Alterations in transcription and pre-mRNA splicing of candidate genes were confirmed experimentally in the cell line models as well as in brain and spinal cord of transgenic mice carrying the G93A-SOD1 mutation. Our findings expand the realm of the pathways implicated in neurodegeneration and suggest that alterations of axonal function may descend directly from mitochondrial damage.</abstract>
</profileDesc>
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