SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Identifieur interne : 001300 ( Main/Exploration ); précédent : 001299; suivant : 001301SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Auteurs : Elisa Rubino ; Innocenzo Rainero ; Adriano Chi ; Ekaterina Rogaeva ; Daniela Galimberti ; Pierpaola Fenoglio ; Yakov Grinberg ; Giancarlo Isaia ; Andrea Calvo ; Salvatore Gentile ; Amalia Cecilia Bruni ; Peter Henry St. George-Hyslop ; Elio Scarpini ; Salvatore Gallone ; Lorenzo PinessiSource :
- Neurology [ 0028-3878 ] ; 2012.
Abstract
There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Recently, mutations in the sequestosome 1 (
Promoter region and all exons of
We identified 6 missense mutations in the coding region of
Url:
DOI: 10.1212/WNL.0b013e31826e25df
PubMed: 22972638
PubMed Central: 3655323
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>SQSTM1</italic> mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis</title><author><name sortKey="Rubino, Elisa" sort="Rubino, Elisa" uniqKey="Rubino E" first="Elisa" last="Rubino">Elisa Rubino</name></author><author><name sortKey="Rainero, Innocenzo" sort="Rainero, Innocenzo" uniqKey="Rainero I" first="Innocenzo" last="Rainero">Innocenzo Rainero</name></author><author><name sortKey="Chi, Adriano" sort="Chi, Adriano" uniqKey="Chi A" first="Adriano" last="Chi">Adriano Chi</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></author><author><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name></author><author><name sortKey="Fenoglio, Pierpaola" sort="Fenoglio, Pierpaola" uniqKey="Fenoglio P" first="Pierpaola" last="Fenoglio">Pierpaola Fenoglio</name></author><author><name sortKey="Grinberg, Yakov" sort="Grinberg, Yakov" uniqKey="Grinberg Y" first="Yakov" last="Grinberg">Yakov Grinberg</name></author><author><name sortKey="Isaia, Giancarlo" sort="Isaia, Giancarlo" uniqKey="Isaia G" first="Giancarlo" last="Isaia">Giancarlo Isaia</name></author><author><name sortKey="Calvo, Andrea" sort="Calvo, Andrea" uniqKey="Calvo A" first="Andrea" last="Calvo">Andrea Calvo</name></author><author><name sortKey="Gentile, Salvatore" sort="Gentile, Salvatore" uniqKey="Gentile S" first="Salvatore" last="Gentile">Salvatore Gentile</name></author><author><name sortKey="Bruni, Amalia Cecilia" sort="Bruni, Amalia Cecilia" uniqKey="Bruni A" first="Amalia Cecilia" last="Bruni">Amalia Cecilia Bruni</name></author><author><name sortKey="St George Hyslop, Peter Henry" sort="St George Hyslop, Peter Henry" uniqKey="St George Hyslop P" first="Peter Henry" last="St. George-Hyslop">Peter Henry St. George-Hyslop</name></author><author><name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name></author><author><name sortKey="Gallone, Salvatore" sort="Gallone, Salvatore" uniqKey="Gallone S" first="Salvatore" last="Gallone">Salvatore Gallone</name></author><author><name sortKey="Pinessi, Lorenzo" sort="Pinessi, Lorenzo" uniqKey="Pinessi L" first="Lorenzo" last="Pinessi">Lorenzo Pinessi</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22972638</idno><idno type="pmc">3655323</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3655323</idno><idno type="RBID">PMC:3655323</idno><idno type="doi">10.1212/WNL.0b013e31826e25df</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000049</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000049</idno><idno type="wicri:Area/Pmc/Curation">000049</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000049</idno><idno type="wicri:Area/Pmc/Checkpoint">000874</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000874</idno><idno type="wicri:Area/Ncbi/Merge">001251</idno><idno type="wicri:Area/Ncbi/Curation">001251</idno><idno type="wicri:Area/Ncbi/Checkpoint">001251</idno><idno type="wicri:Area/Main/Merge">001332</idno><idno type="wicri:Area/Main/Curation">001300</idno><idno type="wicri:Area/Main/Exploration">001300</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>SQSTM1</italic> mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis</title><author><name sortKey="Rubino, Elisa" sort="Rubino, Elisa" uniqKey="Rubino E" first="Elisa" last="Rubino">Elisa Rubino</name></author><author><name sortKey="Rainero, Innocenzo" sort="Rainero, Innocenzo" uniqKey="Rainero I" first="Innocenzo" last="Rainero">Innocenzo Rainero</name></author><author><name sortKey="Chi, Adriano" sort="Chi, Adriano" uniqKey="Chi A" first="Adriano" last="Chi">Adriano Chi</name></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></author><author><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name></author><author><name sortKey="Fenoglio, Pierpaola" sort="Fenoglio, Pierpaola" uniqKey="Fenoglio P" first="Pierpaola" last="Fenoglio">Pierpaola Fenoglio</name></author><author><name sortKey="Grinberg, Yakov" sort="Grinberg, Yakov" uniqKey="Grinberg Y" first="Yakov" last="Grinberg">Yakov Grinberg</name></author><author><name sortKey="Isaia, Giancarlo" sort="Isaia, Giancarlo" uniqKey="Isaia G" first="Giancarlo" last="Isaia">Giancarlo Isaia</name></author><author><name sortKey="Calvo, Andrea" sort="Calvo, Andrea" uniqKey="Calvo A" first="Andrea" last="Calvo">Andrea Calvo</name></author><author><name sortKey="Gentile, Salvatore" sort="Gentile, Salvatore" uniqKey="Gentile S" first="Salvatore" last="Gentile">Salvatore Gentile</name></author><author><name sortKey="Bruni, Amalia Cecilia" sort="Bruni, Amalia Cecilia" uniqKey="Bruni A" first="Amalia Cecilia" last="Bruni">Amalia Cecilia Bruni</name></author><author><name sortKey="St George Hyslop, Peter Henry" sort="St George Hyslop, Peter Henry" uniqKey="St George Hyslop P" first="Peter Henry" last="St. George-Hyslop">Peter Henry St. George-Hyslop</name></author><author><name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name></author><author><name sortKey="Gallone, Salvatore" sort="Gallone, Salvatore" uniqKey="Gallone S" first="Salvatore" last="Gallone">Salvatore Gallone</name></author><author><name sortKey="Pinessi, Lorenzo" sort="Pinessi, Lorenzo" uniqKey="Pinessi L" first="Lorenzo" last="Pinessi">Lorenzo Pinessi</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><idno type="eISSN">1526-632X</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective:</title><p>There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Recently, mutations in the sequestosome 1 (<italic>SQSTM1</italic>) gene, which encodes p62 protein, have been reported in patients with ALS. P62 is a multifunctional adapter protein mainly involved in selective autophagy, oxidative stress response, and cell signaling pathways. The purpose of our study was to evaluate the frequency of <italic>SQSTM1</italic> mutations in a dataset of unrelated patients with FTLD or ALS, in comparison with healthy controls and patients with Paget disease of bone (PDB).</p></sec><sec><title>Methods:</title><p>Promoter region and all exons of <italic>SQSTM1</italic> were sequenced in a large group of subjects, including patients with FTLD or ALS, healthy controls, and patients with PDB. The clinical characteristics of patients with FTLD or ALS with gene mutations were examined.</p></sec><sec><title>Results:</title><p>We identified 6 missense mutations in the coding region of <italic>SQSTM1</italic> in patients with either FTLD or ALS, none of which were found in healthy controls or patients with PDB. In silico analysis suggested a pathogenetic role for these mutations. Furthermore, 7 novel noncoding <italic>SQSTM1</italic> variants were found in patients with FTLD and patients with ALS, including 4 variations in the promoter region.</p></sec><sec><title>Conclusions:</title><p><italic>SQSTM1</italic> mutations are present in patients with FTLD and patients with ALS. Additional studies are warranted in order to better investigate the role of p62 in the pathogenesis of both FTLD and ALS.</p></sec></div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Bruni, Amalia Cecilia" sort="Bruni, Amalia Cecilia" uniqKey="Bruni A" first="Amalia Cecilia" last="Bruni">Amalia Cecilia Bruni</name><name sortKey="Calvo, Andrea" sort="Calvo, Andrea" uniqKey="Calvo A" first="Andrea" last="Calvo">Andrea Calvo</name><name sortKey="Chi, Adriano" sort="Chi, Adriano" uniqKey="Chi A" first="Adriano" last="Chi">Adriano Chi</name><name sortKey="Fenoglio, Pierpaola" sort="Fenoglio, Pierpaola" uniqKey="Fenoglio P" first="Pierpaola" last="Fenoglio">Pierpaola Fenoglio</name><name sortKey="Galimberti, Daniela" sort="Galimberti, Daniela" uniqKey="Galimberti D" first="Daniela" last="Galimberti">Daniela Galimberti</name><name sortKey="Gallone, Salvatore" sort="Gallone, Salvatore" uniqKey="Gallone S" first="Salvatore" last="Gallone">Salvatore Gallone</name><name sortKey="Gentile, Salvatore" sort="Gentile, Salvatore" uniqKey="Gentile S" first="Salvatore" last="Gentile">Salvatore Gentile</name><name sortKey="Grinberg, Yakov" sort="Grinberg, Yakov" uniqKey="Grinberg Y" first="Yakov" last="Grinberg">Yakov Grinberg</name><name sortKey="Isaia, Giancarlo" sort="Isaia, Giancarlo" uniqKey="Isaia G" first="Giancarlo" last="Isaia">Giancarlo Isaia</name><name sortKey="Pinessi, Lorenzo" sort="Pinessi, Lorenzo" uniqKey="Pinessi L" first="Lorenzo" last="Pinessi">Lorenzo Pinessi</name><name sortKey="Rainero, Innocenzo" sort="Rainero, Innocenzo" uniqKey="Rainero I" first="Innocenzo" last="Rainero">Innocenzo Rainero</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Rubino, Elisa" sort="Rubino, Elisa" uniqKey="Rubino E" first="Elisa" last="Rubino">Elisa Rubino</name><name sortKey="Scarpini, Elio" sort="Scarpini, Elio" uniqKey="Scarpini E" first="Elio" last="Scarpini">Elio Scarpini</name><name sortKey="St George Hyslop, Peter Henry" sort="St George Hyslop, Peter Henry" uniqKey="St George Hyslop P" first="Peter Henry" last="St. George-Hyslop">Peter Henry St. George-Hyslop</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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