ParkinsonFranceV1, Hal, Curation, bibRecord, 000708

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 : 000709

Mutant 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.

RBID : Hal:hal-00610796

Descripteurs français

mix :
- Life Sciences.

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.

Url:

https://hal.archives-ouvertes.fr/hal-00610796

DOI: 10.1002/humu.21394

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Le document en format XML

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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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                    <surname>Carrì</surname>
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                    <surname>Barabino</surname>
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                <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>
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            <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>
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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegeneration

Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegeneration

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