Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100002 |
Resumo: | The alpha-1-antitrypsin (A1AT) gene is highly polymorphic, with more than 100 genetic variants identified of which some can affect A1AT protein concentration and/or function and lead to pulmonary and/or liver disease. This study reports on the characterization of a p.G320R variant found in two patients, one with emphysema and the other with lung cancer. This variant results from a single base-pair substitution in exon 4 of the A1AT gene, and has been characterized as P by isoelectric focusing. Functional evaluation of the A1AT p.G320R variant was through comparing specific trypsin inhibitory activity in two patients with pulmonary disorders, carriers of the p.G320R variant, and 19 healthy individuals, carriers of normal A1AT M variants. Results showed that specific trypsin inhibitory activity was lower in both emphysema (2.45 mU/g) and lung cancer (2.07 mU/g) patients than in carriers of the normal variants (range 2.51-3.71 mU/g). This rare A1AT variant is associated with reduced functional activity of A1AT protein. Considering that it was found in patients with severe pulmonary disorders, this variant could be of clinical significance. |
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Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patientsalpha-1-antitrypsinemphysemalung cancerP variantspecific trypsin inhibitory activityThe alpha-1-antitrypsin (A1AT) gene is highly polymorphic, with more than 100 genetic variants identified of which some can affect A1AT protein concentration and/or function and lead to pulmonary and/or liver disease. This study reports on the characterization of a p.G320R variant found in two patients, one with emphysema and the other with lung cancer. This variant results from a single base-pair substitution in exon 4 of the A1AT gene, and has been characterized as P by isoelectric focusing. Functional evaluation of the A1AT p.G320R variant was through comparing specific trypsin inhibitory activity in two patients with pulmonary disorders, carriers of the p.G320R variant, and 19 healthy individuals, carriers of normal A1AT M variants. Results showed that specific trypsin inhibitory activity was lower in both emphysema (2.45 mU/g) and lung cancer (2.07 mU/g) patients than in carriers of the normal variants (range 2.51-3.71 mU/g). This rare A1AT variant is associated with reduced functional activity of A1AT protein. Considering that it was found in patients with severe pulmonary disorders, this variant could be of clinical significance.Sociedade Brasileira de Genética2010-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100002Genetics and Molecular Biology v.33 n.1 2010reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572009005000100info:eu-repo/semantics/openAccessLjujic,MilaTopic,AleksandraNikolic,AleksandraDivac,AleksandraGrujic,MilanMitic-Milikic,MarijaRadojkovic,Dragicaeng2010-02-12T00:00:00Zoai:scielo:S1415-47572010000100002Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2010-02-12T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients |
title |
Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients |
spellingShingle |
Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients Ljujic,Mila alpha-1-antitrypsin emphysema lung cancer P variant specific trypsin inhibitory activity |
title_short |
Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients |
title_full |
Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients |
title_fullStr |
Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients |
title_full_unstemmed |
Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients |
title_sort |
Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients |
author |
Ljujic,Mila |
author_facet |
Ljujic,Mila Topic,Aleksandra Nikolic,Aleksandra Divac,Aleksandra Grujic,Milan Mitic-Milikic,Marija Radojkovic,Dragica |
author_role |
author |
author2 |
Topic,Aleksandra Nikolic,Aleksandra Divac,Aleksandra Grujic,Milan Mitic-Milikic,Marija Radojkovic,Dragica |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Ljujic,Mila Topic,Aleksandra Nikolic,Aleksandra Divac,Aleksandra Grujic,Milan Mitic-Milikic,Marija Radojkovic,Dragica |
dc.subject.por.fl_str_mv |
alpha-1-antitrypsin emphysema lung cancer P variant specific trypsin inhibitory activity |
topic |
alpha-1-antitrypsin emphysema lung cancer P variant specific trypsin inhibitory activity |
description |
The alpha-1-antitrypsin (A1AT) gene is highly polymorphic, with more than 100 genetic variants identified of which some can affect A1AT protein concentration and/or function and lead to pulmonary and/or liver disease. This study reports on the characterization of a p.G320R variant found in two patients, one with emphysema and the other with lung cancer. This variant results from a single base-pair substitution in exon 4 of the A1AT gene, and has been characterized as P by isoelectric focusing. Functional evaluation of the A1AT p.G320R variant was through comparing specific trypsin inhibitory activity in two patients with pulmonary disorders, carriers of the p.G320R variant, and 19 healthy individuals, carriers of normal A1AT M variants. Results showed that specific trypsin inhibitory activity was lower in both emphysema (2.45 mU/g) and lung cancer (2.07 mU/g) patients than in carriers of the normal variants (range 2.51-3.71 mU/g). This rare A1AT variant is associated with reduced functional activity of A1AT protein. Considering that it was found in patients with severe pulmonary disorders, this variant could be of clinical significance. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100002 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100002 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1415-47572009005000100 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.33 n.1 2010 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122382421590016 |