Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1

Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process. Aim: To analyze an exceptional case of...

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Autores principales:	Asenjo M,Sylvia, Gleisner E,Andrea, Pérez B,Francisco
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2004
Materias:	Diabetes Mellitus insulin dependent Ethnic groups HLA-DR antigens
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000100007
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spelling	oai:scielo:S0034-988720040001000072014-08-14Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1Asenjo M,SylviaGleisner E,AndreaPérez B,Francisco Diabetes Mellitus insulin dependent Ethnic groups HLA-DR antigens Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process. Aim: To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors. Subjects and methods: A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot. Results: The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All the family was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A68012/A68012 allele. Mean breast feeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family. Conclusions: There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease (Rev Méd Chile 2004; 132: 47-50)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.132 n.1 20042004-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000100007es10.4067/S0034-98872004000100007
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Diabetes Mellitus insulin dependent Ethnic groups HLA-DR antigens
spellingShingle	Diabetes Mellitus insulin dependent Ethnic groups HLA-DR antigens Asenjo M,Sylvia Gleisner E,Andrea Pérez B,Francisco Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1
description	Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process. Aim: To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors. Subjects and methods: A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot. Results: The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All the family was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A68012/A68012 allele. Mean breast feeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family. Conclusions: There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease (Rev Méd Chile 2004; 132: 47-50)
author	Asenjo M,Sylvia Gleisner E,Andrea Pérez B,Francisco
author_facet	Asenjo M,Sylvia Gleisner E,Andrea Pérez B,Francisco
author_sort	Asenjo M,Sylvia
title	Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1
title_short	Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1
title_full	Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1
title_fullStr	Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1
title_full_unstemmed	Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1
title_sort	marcadores genéticos (hla) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1
publisher	Sociedad Médica de Santiago
publishDate	2004
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000100007
work_keys_str_mv	AT asenjomsylvia marcadoresgeneticoshlayperfildeautoanticuerposenunafamiliamapucheconuncasodediabetestipo1 AT gleisnereandrea marcadoresgeneticoshlayperfildeautoanticuerposenunafamiliamapucheconuncasodediabetestipo1 AT perezbfrancisco marcadoresgeneticoshlayperfildeautoanticuerposenunafamiliamapucheconuncasodediabetestipo1
_version_	1718436130242691072

Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1

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