Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan.
Identifieur interne : 002287 ( Ncbi/Checkpoint ); précédent : 002286; suivant : 002288Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan.
Auteurs : Hiroyuki Tomiyama [Japon] ; Yasumasa Kokubo ; Ryogen Sasaki ; Yuanzhe Li ; Yoko Imamichi ; Manabu Funayama ; Yoshikuni Mizuno ; Nobutaka Hattori ; Shigeki KuzuharaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
Descripteurs français
- Wicri :
- geographic : Japon.
English descriptors
- KwdEn :
- Aged, Amyotrophic Lateral Sclerosis (complications), Amyotrophic Lateral Sclerosis (genetics), DNA Mutational Analysis, DNA-Binding Proteins (genetics), Dementia (complications), Dementia (genetics), Family Health, Female, Glycogen Synthase Kinase 3 (genetics), Humans, Japan, Male, Middle Aged, Mutation (genetics), Parkinsonian Disorders (complications), Parkinsonian Disorders (genetics), Ubiquitin-Protein Ligases (genetics), alpha-Synuclein (genetics), tau Proteins (genetics).
- MESH :
- chemical , genetics : DNA-Binding Proteins, Glycogen Synthase Kinase 3, Ubiquitin-Protein Ligases, alpha-Synuclein, tau Proteins.
- geographic : Japan.
- complications : Amyotrophic Lateral Sclerosis, Dementia, Parkinsonian Disorders.
- genetics : Amyotrophic Lateral Sclerosis, Dementia, Mutation, Parkinsonian Disorders.
- Aged, DNA Mutational Analysis, Family Health, Female, Humans, Male, Middle Aged.
Abstract
To clarify the genetic background of amyotrophic lateral sclerosis (ALS)/parkinsonism-dementia complex (PDC) of the Kii peninsula, Japan (Kii ALS/PDC), we performed extended mutation analyses of three patients with pathologically diagnosed Kii ALS/PDC. Direct sequencing analyses were performed in 19 genes, including ALS/frontotemporal lobar degeneration (FTLD)-related genes (SOD2, SOD3, ALS2/alsin, SMN1, PGRN, ANG, VEGF, VCP, VAPB, DCTN1, CHMP2B, and TARDBP or TDP-43), tauopathy-related gene (GSK3beta), and parkinsonism-related genes (alpha-synuclein, LRRK2, parkin, DJ-1, PINK1, and ATP13A2). Gene dosage analyses were conducted in screening of MAPT, alpha-synuclein, TDP-43 (or TARDBP), GSK3beta, and parkin. We found no mutation in the 19 genes. We found a homozygous nonsynonymous SNP (ALS2/alsin V368M) shared by all the three patients. Gene dosage was normal in MAPT, alpha-synuclein, TDP-43, GSK3beta, and parkin. The present findings, together with a previous negative study on MAPT and SOD1 mutation, further elucidated the lack of causative mutations in all exons, exon-intron boundaries, or some rearrangements of the reported major causative or susceptible genes related to ALS, FTLD, parkinsonism, synucleinopathy, TDP-43 proteinopathy, and tauopathy. However, the familial aggregation and lack of any environment factors suggest that Kii ALS/PDC is caused by other yet unidentified genetic factors.
DOI: 10.1002/mds.22262
PubMed: 18759352
Affiliations:
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Sasaki</name></author><author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name></author><author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name></author><author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></author><author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno 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School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name></author><author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name></author><author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name></author><author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name></author><author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></author><author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Amyotrophic Lateral Sclerosis (complications)</term><term>Amyotrophic Lateral Sclerosis (genetics)</term><term>DNA Mutational Analysis</term><term>DNA-Binding Proteins (genetics)</term><term>Dementia (complications)</term><term>Dementia (genetics)</term><term>Family Health</term><term>Female</term><term>Glycogen Synthase Kinase 3 (genetics)</term><term>Humans</term><term>Japan</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>alpha-Synuclein (genetics)</term><term>tau Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term><term>Glycogen Synthase Kinase 3</term><term>Ubiquitin-Protein Ligases</term><term>alpha-Synuclein</term><term>tau Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Japan</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Amyotrophic Lateral Sclerosis</term><term>Dementia</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amyotrophic Lateral Sclerosis</term><term>Dementia</term><term>Mutation</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To clarify the genetic background of amyotrophic lateral sclerosis (ALS)/parkinsonism-dementia complex (PDC) of the Kii peninsula, Japan (Kii ALS/PDC), we performed extended mutation analyses of three patients with pathologically diagnosed Kii ALS/PDC. Direct sequencing analyses were performed in 19 genes, including ALS/frontotemporal lobar degeneration (FTLD)-related genes (SOD2, SOD3, ALS2/alsin, SMN1, PGRN, ANG, VEGF, VCP, VAPB, DCTN1, CHMP2B, and TARDBP or TDP-43), tauopathy-related gene (GSK3beta), and parkinsonism-related genes (alpha-synuclein, LRRK2, parkin, DJ-1, PINK1, and ATP13A2). Gene dosage analyses were conducted in screening of MAPT, alpha-synuclein, TDP-43 (or TARDBP), GSK3beta, and parkin. We found no mutation in the 19 genes. We found a homozygous nonsynonymous SNP (ALS2/alsin V368M) shared by all the three patients. Gene dosage was normal in MAPT, alpha-synuclein, TDP-43, GSK3beta, and parkin. The present findings, together with a previous negative study on MAPT and SOD1 mutation, further elucidated the lack of causative mutations in all exons, exon-intron boundaries, or some rearrangements of the reported major causative or susceptible genes related to ALS, FTLD, parkinsonism, synucleinopathy, TDP-43 proteinopathy, and tauopathy. However, the familial aggregation and lack of any environment factors suggest that Kii ALS/PDC is caused by other yet unidentified genetic factors.</div></front></TEI><affiliations><list><country><li>Japon</li></country><settlement><li>Tokyo</li></settlement></list><tree><noCountry><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="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</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="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name></noCountry><country name="Japon"><noRegion><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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