ParkinsonCanadaV1, Main, Exploration, bibRecord, 000A79

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

Identifieur interne : 000A79 ( Main/Exploration ); précédent : 000A78; suivant : 000A80

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

Auteurs : Kenya Nishioka [États-Unis, Japon] ; Manabu Funayama [Japon] ; Carles Vilari O-Güell [Canada] ; Kotaro Ogaki [États-Unis, Japon] ; Yuanzhe Li [Japon] ; Ryogen Sasaki [Japon] ; Yasumasa Kokubo [Japon] ; Shigeki Kuzuhara [Japon] ; Jennifer M. Kachergus [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Hirohide Takahashi [Japon] ; Yoshikuni Mizuno [Japon] ; Matthew J. Farrer [Canada] ; Owen A. Ross [États-Unis] ; Nobutaka Hattori [Japon]

Source :

Parkinsonism & related disorders [ 1353-8020 ] ; 2014.

RBID : PMC:4034257

English descriptors

KwdEn :
- Adult, Aged, Asian Continental Ancestry Group (genetics), DNA Mutational Analysis, Eukaryotic Initiation Factor-4G (genetics), Exons (genetics), Female, Genetic Predisposition to Disease (genetics), Humans, Male, Middle Aged, Parkinson Disease (genetics), Point Mutation (genetics), Polyglutamic Acid (genetics).
MESH :
- chemical , genetics : Eukaryotic Initiation Factor-4G, Polyglutamic Acid.
- genetics : Asian Continental Ancestry Group, Exons, Genetic Predisposition to Disease, Parkinson Disease, Point Mutation.
- Adult, Aged, DNA Mutational Analysis, Female, Humans, Male, Middle Aged.

Abstract

Pathogenic mutations in the EIF4G1 gene were recently reported as a cause of autosomal dominant parkinsonism. To assess the frequency of EIF4G1 mutations in the Japanese population we sequenced the entire gene coding region (31 exons) in 95 patients with an apparent autosomal dominant inherited form of Parkinson's disease. We detected three novel point mutations located in a poly-glutamic acid repeat within exon10. These variants were screened through 224 Parkinson's disease cases and 374 normal controls from the Japanese population. We detected the poly-glutamic acid deletion in exon 10 in two additional patients with sporadic Parkinson's disease. Although the EIF4G1 variants identified in the present study were not observed in control subjects, co-segregation analyses and population-based screening data suggest they are not pathogenic. In conclusion, we did not identify novel or previously reported pathogenic mutations (including the p.A502V and p.R1205H mutants) within EIF4G1 in the Japanese population, thus future studies are warranted to elucidate the role of this gene in Parkinson's disease.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034257

DOI: 10.1016/j.parkreldis.2014.03.004
PubMed: 24704100
PubMed Central: 4034257

Affiliations:

Le document en format XML

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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Pathogenic mutations in the <italic>EIF4G1</italic>
 gene were recently reported as a cause of autosomal dominant parkinsonism. To assess the frequency of <italic>EIF4G1</italic>
 mutations in the Japanese population we sequenced the entire gene coding region (31 exons) in 95 patients with an apparent autosomal dominant inherited form of Parkinson's disease. We detected three novel point mutations located in a poly-glutamic acid repeat within exon10. These variants were screened through 224 Parkinson's disease cases and 374 normal controls from the Japanese population. We detected the poly-glutamic acid deletion in exon 10 in two additional patients with sporadic Parkinson's disease. Although the <italic>EIF4G1</italic>
 variants identified in the present study were not observed in control subjects, co-segregation analyses and population-based screening data suggest they are not pathogenic. In conclusion, we did not identify novel or previously reported pathogenic mutations (including the p.A502V and p.R1205H mutants) within <italic>EIF4G1</italic>
 in the Japanese population, thus future studies are warranted to elucidate the role of this gene in Parkinson's disease.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>Japon</li>
<li>États-Unis</li>
</country>
<region><li>Floride</li>
</region>
<settlement><li>Tokyo</li>
</settlement>
</list>
<tree><country name="États-Unis"><region name="Floride"><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
</region>
<name sortKey="Cobb, Stephanie A" sort="Cobb, Stephanie A" uniqKey="Cobb S" first="Stephanie A" last="Cobb">Stephanie A. Cobb</name>
<name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name>
<name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
</country>
<country name="Japon"><noRegion><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
</noRegion>
<name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
<name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name>
<name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name>
<name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
<name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
<name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
<name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name>
<name sortKey="Takahashi, Hirohide" sort="Takahashi, Hirohide" uniqKey="Takahashi H" first="Hirohide" last="Takahashi">Hirohide Takahashi</name>
</country>
<country name="Canada"><noRegion><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name>
</noRegion>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
</country>
</tree>
</affiliations>
</record>

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La maladie de Parkinson au Canada (serveur d'exploration)

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

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	La maladie de Parkinson au Canada (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.