Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation
We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compar...
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| Veröffentlicht in: | Neuroscience letters 2001-10, Vol.312 (3), p.165-168 |
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| container_end_page | 168 |
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| container_issue | 3 |
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| container_title | Neuroscience letters |
| container_volume | 312 |
| creator | Kato, Masaaki Aoki, Masashi Ohta, Michiya Nagai, Makiko Ishizaki, Fumiko Nakamura, Shigenobu Itoyama, Yasuto |
| description | We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case. |
| doi_str_mv | 10.1016/S0304-3940(01)02212-1 |
| format | Article |
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The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case.</description><identifier>ISSN: 0304-3940</identifier><identifier>EISSN: 1872-7972</identifier><identifier>DOI: 10.1016/S0304-3940(01)02212-1</identifier><identifier>PMID: 11602336</identifier><identifier>CODEN: NELED5</identifier><language>eng</language><publisher>Shannon: Elsevier Ireland Ltd</publisher><subject>Adult ; Aged ; Amyotrophic lateral sclerosis ; Amyotrophic Lateral Sclerosis - blood ; Amyotrophic Lateral Sclerosis - enzymology ; Amyotrophic Lateral Sclerosis - genetics ; Biological and medical sciences ; Cu/Zn superoxide dismutase ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA Mutational Analysis ; Down-Regulation - genetics ; Erythrocytes - metabolism ; Exons - genetics ; Female ; Genetic Testing ; Homozygote ; Homozygous mutation ; Humans ; Japan ; Male ; Medical sciences ; Middle Aged ; Mutation, Missense - genetics ; Neurology ; Pedigree ; Phenotype ; Superoxide Dismutase - blood ; Superoxide Dismutase - deficiency ; Superoxide Dismutase - genetics</subject><ispartof>Neuroscience letters, 2001-10, Vol.312 (3), p.165-168</ispartof><rights>2001 Elsevier Science Ireland Ltd</rights><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c391t-9febfe3bf172f88f05635ff4de3602120e2c02cfa6f8b481877f4331357f922f3</citedby><cites>FETCH-LOGICAL-c391t-9febfe3bf172f88f05635ff4de3602120e2c02cfa6f8b481877f4331357f922f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0304-3940(01)02212-1$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14110743$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11602336$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kato, Masaaki</creatorcontrib><creatorcontrib>Aoki, Masashi</creatorcontrib><creatorcontrib>Ohta, Michiya</creatorcontrib><creatorcontrib>Nagai, Makiko</creatorcontrib><creatorcontrib>Ishizaki, Fumiko</creatorcontrib><creatorcontrib>Nakamura, Shigenobu</creatorcontrib><creatorcontrib>Itoyama, Yasuto</creatorcontrib><title>Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation</title><title>Neuroscience letters</title><addtitle>Neurosci Lett</addtitle><description>We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case.</description><subject>Adult</subject><subject>Aged</subject><subject>Amyotrophic lateral sclerosis</subject><subject>Amyotrophic Lateral Sclerosis - blood</subject><subject>Amyotrophic Lateral Sclerosis - enzymology</subject><subject>Amyotrophic Lateral Sclerosis - genetics</subject><subject>Biological and medical sciences</subject><subject>Cu/Zn superoxide dismutase</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA Mutational Analysis</subject><subject>Down-Regulation - genetics</subject><subject>Erythrocytes - metabolism</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Genetic Testing</subject><subject>Homozygote</subject><subject>Homozygous mutation</subject><subject>Humans</subject><subject>Japan</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation, Missense - genetics</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Superoxide Dismutase - blood</subject><subject>Superoxide Dismutase - deficiency</subject><subject>Superoxide Dismutase - genetics</subject><issn>0304-3940</issn><issn>1872-7972</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1uFDEQhC1ERJaFRwD5AoLDELc9vyeEVvxECuIAXLhYXk-bNXjGE9sDWV6CV8azu0qOnCy1vuouVxHyBNgrYFBffGaClYXoSvaCwUvGOfAC7pEVtA0vmq7h98nqFjknD2P8wRiroCofkHOAmnEh6hX5-1GFn9jTgP2sk_Uj9YamHdLNfPFtpHGeMPgb2yPtbRzmpCLSybv9hFNapnakiuplmnVGDdZZ5aga9j4FP-2spk4lDHkWtcuroo30t027w42dH_yf_Xc_R7qsXs4_ImdGuYiPT--afH339svmQ3H16f3l5s1VoUUHqegMbg2KrYGGm7Y1rKpFZUzZo8g_A86Qa8a1UbVpt2WbQ2lMKQSIqjEd50asyfPj3in46xljkoONGp1TI2Y_suGciZZXGayOoM7mY0Ajp2AHFfYSmFyakIcm5BKzZCAPTUjIuqenA_N2wP5OdYo-A89OgIpaORPUqG2840oA1mTPa_L6yGGO45fFIKO2OGrsbUCdZO_tf6z8Azq_p_U</recordid><startdate>20011026</startdate><enddate>20011026</enddate><creator>Kato, Masaaki</creator><creator>Aoki, Masashi</creator><creator>Ohta, Michiya</creator><creator>Nagai, Makiko</creator><creator>Ishizaki, Fumiko</creator><creator>Nakamura, Shigenobu</creator><creator>Itoyama, Yasuto</creator><general>Elsevier Ireland Ltd</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20011026</creationdate><title>Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation</title><author>Kato, Masaaki ; Aoki, Masashi ; Ohta, Michiya ; Nagai, Makiko ; Ishizaki, Fumiko ; Nakamura, Shigenobu ; Itoyama, Yasuto</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c391t-9febfe3bf172f88f05635ff4de3602120e2c02cfa6f8b481877f4331357f922f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Amyotrophic lateral sclerosis</topic><topic>Amyotrophic Lateral Sclerosis - blood</topic><topic>Amyotrophic Lateral Sclerosis - enzymology</topic><topic>Amyotrophic Lateral Sclerosis - genetics</topic><topic>Biological and medical sciences</topic><topic>Cu/Zn superoxide dismutase</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DNA Mutational Analysis</topic><topic>Down-Regulation - genetics</topic><topic>Erythrocytes - metabolism</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Genetic Testing</topic><topic>Homozygote</topic><topic>Homozygous mutation</topic><topic>Humans</topic><topic>Japan</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation, Missense - genetics</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Superoxide Dismutase - blood</topic><topic>Superoxide Dismutase - deficiency</topic><topic>Superoxide Dismutase - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kato, Masaaki</creatorcontrib><creatorcontrib>Aoki, Masashi</creatorcontrib><creatorcontrib>Ohta, Michiya</creatorcontrib><creatorcontrib>Nagai, Makiko</creatorcontrib><creatorcontrib>Ishizaki, Fumiko</creatorcontrib><creatorcontrib>Nakamura, Shigenobu</creatorcontrib><creatorcontrib>Itoyama, Yasuto</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Neuroscience letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kato, Masaaki</au><au>Aoki, Masashi</au><au>Ohta, Michiya</au><au>Nagai, Makiko</au><au>Ishizaki, Fumiko</au><au>Nakamura, Shigenobu</au><au>Itoyama, Yasuto</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation</atitle><jtitle>Neuroscience letters</jtitle><addtitle>Neurosci Lett</addtitle><date>2001-10-26</date><risdate>2001</risdate><volume>312</volume><issue>3</issue><spage>165</spage><epage>168</epage><pages>165-168</pages><issn>0304-3940</issn><eissn>1872-7972</eissn><coden>NELED5</coden><abstract>We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case.</abstract><cop>Shannon</cop><pub>Elsevier Ireland Ltd</pub><pmid>11602336</pmid><doi>10.1016/S0304-3940(01)02212-1</doi><tpages>4</tpages></addata></record> |
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| ispartof | Neuroscience letters, 2001-10, Vol.312 (3), p.165-168 |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Adult Aged Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - blood Amyotrophic Lateral Sclerosis - enzymology Amyotrophic Lateral Sclerosis - genetics Biological and medical sciences Cu/Zn superoxide dismutase Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis Down-Regulation - genetics Erythrocytes - metabolism Exons - genetics Female Genetic Testing Homozygote Homozygous mutation Humans Japan Male Medical sciences Middle Aged Mutation, Missense - genetics Neurology Pedigree Phenotype Superoxide Dismutase - blood Superoxide Dismutase - deficiency Superoxide Dismutase - genetics |
| title | Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation |
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