Molecular typing of the HLA-DRB1 gene associated with hypoaglycemia due to endogenous autoimmune hyperisulinism (Hirata syndrome)
Insulin autoimmune syndrome (IAS), called Hirata disease, is a rare endocrine condition characterized by episodes of hypoglycemia due to the presence of high titers of autoantibodies against insulin. IAS is a form of immune-mediated hypoglycemia, which develops when a triggering factor (medicat...
Guardado en:
| Autores principales: | , , , , , |
|---|---|
| Formato: | Artículo revista |
| Publicado: |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2022
|
| Materias: | |
| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/39045 |
| Aporte de: |
| id |
I10-R327-article-39045 |
|---|---|
| record_format |
ojs |
| institution |
Universidad Nacional de Córdoba |
| institution_str |
I-10 |
| repository_str |
R-327 |
| container_title_str |
Revista de la Facultad de Ciencias Médicas de Córdoba |
| format |
Artículo revista |
| topic |
hypoglycemia hyperinsulinemia autoimmune endocrine HLA-DRB1 gene hipoglucemia hiperinsulinemia autoinmune endocrino gen HLA-DRB1 |
| spellingShingle |
hypoglycemia hyperinsulinemia autoimmune endocrine HLA-DRB1 gene hipoglucemia hiperinsulinemia autoinmune endocrino gen HLA-DRB1 Reynoso, RA Gamba, V Ramos, N Di Carlo, M Sembaj, A Fux Otta , C Molecular typing of the HLA-DRB1 gene associated with hypoaglycemia due to endogenous autoimmune hyperisulinism (Hirata syndrome) |
| topic_facet |
hypoglycemia hyperinsulinemia autoimmune endocrine HLA-DRB1 gene hipoglucemia hiperinsulinemia autoinmune endocrino gen HLA-DRB1 |
| author |
Reynoso, RA Gamba, V Ramos, N Di Carlo, M Sembaj, A Fux Otta , C |
| author_facet |
Reynoso, RA Gamba, V Ramos, N Di Carlo, M Sembaj, A Fux Otta , C |
| author_sort |
Reynoso, RA |
| title |
Molecular typing of the HLA-DRB1 gene associated with hypoaglycemia due to endogenous autoimmune hyperisulinism (Hirata syndrome) |
| title_short |
Molecular typing of the HLA-DRB1 gene associated with hypoaglycemia due to endogenous autoimmune hyperisulinism (Hirata syndrome) |
| title_full |
Molecular typing of the HLA-DRB1 gene associated with hypoaglycemia due to endogenous autoimmune hyperisulinism (Hirata syndrome) |
| title_fullStr |
Molecular typing of the HLA-DRB1 gene associated with hypoaglycemia due to endogenous autoimmune hyperisulinism (Hirata syndrome) |
| title_full_unstemmed |
Molecular typing of the HLA-DRB1 gene associated with hypoaglycemia due to endogenous autoimmune hyperisulinism (Hirata syndrome) |
| title_sort |
molecular typing of the hla-drb1 gene associated with hypoaglycemia due to endogenous autoimmune hyperisulinism (hirata syndrome) |
| description |
Insulin autoimmune syndrome (IAS), called Hirata disease, is a rare endocrine condition characterized by episodes of hypoglycemia due to the presence of high titers of autoantibodies against insulin. IAS is a form of immune-mediated hypoglycemia, which develops when a triggering factor (medication or viral infection) acts on an underlying predisposing genetic background. Certain rare diseases, especially of an autoimmune nature, are associated with particular types of polymorphisms in HLA class II genes such as the HLA-DRB1 gene. In a family whose pregnant woman was diagnosed with IAS, we proposed to determine the association between polymorphisms in the HLA-DRB1 gene and IAS.
To determine the association of molecular genetic markers in the HLA-DRB1 gene associated with this pathology, the DNA of each of the members of the family was analyzed by direct sequencing of exon 2 of the HLA-DRB1 gene using the Sanger method.
We identified the genotypes in the family members: the mother is a carrier of the alleles (HLA-DRB1*03/HLA-DRB1*04) in compound heterozygosis, the father was identified as homozygous for the HLA-DRB1*08 allele and the daughter compound heterozygous for alleles (HLA-DRB1*04/HLA-DRB1*08). Genetic counseling was carried out, with special interest in the minor carrying the DRB1*04 allele related to susceptibility to developing IAS when exposed to triggering agents in the future.
The HLA-DRB1*04 allele would represent an immune-genetic marker that would help explain the endocrine and molecular mechanisms involved in the development of IAS. This is the first case described in which a pregnant patient with IAS gives birth to a healthy baby heterozygous for the gene associated with IAS.
|
| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2022 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/39045 |
| work_keys_str_mv |
AT reynosora moleculartypingofthehladrb1geneassociatedwithhypoaglycemiaduetoendogenousautoimmunehyperisulinismhiratasyndrome AT gambav moleculartypingofthehladrb1geneassociatedwithhypoaglycemiaduetoendogenousautoimmunehyperisulinismhiratasyndrome AT ramosn moleculartypingofthehladrb1geneassociatedwithhypoaglycemiaduetoendogenousautoimmunehyperisulinismhiratasyndrome AT dicarlom moleculartypingofthehladrb1geneassociatedwithhypoaglycemiaduetoendogenousautoimmunehyperisulinismhiratasyndrome AT sembaja moleculartypingofthehladrb1geneassociatedwithhypoaglycemiaduetoendogenousautoimmunehyperisulinismhiratasyndrome AT fuxottac moleculartypingofthehladrb1geneassociatedwithhypoaglycemiaduetoendogenousautoimmunehyperisulinismhiratasyndrome AT reynosora tipificacionmoleculardelgenhladrb1asociadoahipoaglucemiaporhiperisulinismoendogenoautoinmunesindromedehirata AT gambav tipificacionmoleculardelgenhladrb1asociadoahipoaglucemiaporhiperisulinismoendogenoautoinmunesindromedehirata AT ramosn tipificacionmoleculardelgenhladrb1asociadoahipoaglucemiaporhiperisulinismoendogenoautoinmunesindromedehirata AT dicarlom tipificacionmoleculardelgenhladrb1asociadoahipoaglucemiaporhiperisulinismoendogenoautoinmunesindromedehirata AT sembaja tipificacionmoleculardelgenhladrb1asociadoahipoaglucemiaporhiperisulinismoendogenoautoinmunesindromedehirata AT fuxottac tipificacionmoleculardelgenhladrb1asociadoahipoaglucemiaporhiperisulinismoendogenoautoinmunesindromedehirata |
| first_indexed |
2024-09-03T21:04:03Z |
| last_indexed |
2024-09-03T21:04:03Z |
| _version_ |
1809210349618987008 |
| spelling |
I10-R327-article-390452024-04-15T16:14:45Z Molecular typing of the HLA-DRB1 gene associated with hypoaglycemia due to endogenous autoimmune hyperisulinism (Hirata syndrome) Tipificación molecular del gen HLA-DRB1 asociado a hipoaglucemia por hiperisulinismo endógeno autoinmune (Síndrome de Hirata) Reynoso, RA Gamba, V Ramos, N Di Carlo, M Sembaj, A Fux Otta , C hypoglycemia hyperinsulinemia autoimmune endocrine HLA-DRB1 gene hipoglucemia hiperinsulinemia autoinmune endocrino gen HLA-DRB1 Insulin autoimmune syndrome (IAS), called Hirata disease, is a rare endocrine condition characterized by episodes of hypoglycemia due to the presence of high titers of autoantibodies against insulin. IAS is a form of immune-mediated hypoglycemia, which develops when a triggering factor (medication or viral infection) acts on an underlying predisposing genetic background. Certain rare diseases, especially of an autoimmune nature, are associated with particular types of polymorphisms in HLA class II genes such as the HLA-DRB1 gene. In a family whose pregnant woman was diagnosed with IAS, we proposed to determine the association between polymorphisms in the HLA-DRB1 gene and IAS. To determine the association of molecular genetic markers in the HLA-DRB1 gene associated with this pathology, the DNA of each of the members of the family was analyzed by direct sequencing of exon 2 of the HLA-DRB1 gene using the Sanger method. We identified the genotypes in the family members: the mother is a carrier of the alleles (HLA-DRB1*03/HLA-DRB1*04) in compound heterozygosis, the father was identified as homozygous for the HLA-DRB1*08 allele and the daughter compound heterozygous for alleles (HLA-DRB1*04/HLA-DRB1*08). Genetic counseling was carried out, with special interest in the minor carrying the DRB1*04 allele related to susceptibility to developing IAS when exposed to triggering agents in the future. The HLA-DRB1*04 allele would represent an immune-genetic marker that would help explain the endocrine and molecular mechanisms involved in the development of IAS. This is the first case described in which a pregnant patient with IAS gives birth to a healthy baby heterozygous for the gene associated with IAS. El síndrome hipoglucemia autoinmune (IAS) o enfermedad de Hirata, es una condición endócrina rara, caracterizada por episodios de hipoglucemia debido a la presencia de títulos elevados de autoanticuerpos contra la insulina(IAA). El IAS es una forma de hipoglucemia inmunomediada, que se desarrolla cuando un factor desencadenante (medicamento, infección viral, entre otras) actúa sobre un antecedente genético predisponente subyacente. Ciertas enfermedades raras, especialmente de naturaleza autoinmune están asociadas con tipos particulares de polimorfismos en genes HLA clase II como el gen HLA-DRB1. Se investigó a una familia compuesta por tres integrantes cuya madre fue diagnosticada con IAS. Para determinar la asociación de marcadores genéticos moleculares en el gen HLA-DRB1 asociados a esta patología, se procedió al análisis del ADN de cada uno de los integrantes de la familia mediante secuenciación directa por el método de Sanger del exón 2 del gen DRB1. Identificamos los genotipos en los miembros de la familia: la madre es portadora de los alelos (HLA-DRB1*03/HLA-DRB1*04) en heterocigocis compuesta, el padre se identificó como homocigota para el alelo HLA-DRB1*08 y la hija heterocigota compuesta para los alelos (HLA-DRB1*04/HLA-DRB1*08). Se procedió al asesoramiento genético, con especial interés en la menor que porta el alelo DRB1*04 relacionado con susceptibilidad a desarrollar IAS al exponerse en un futuro a agentes desencadenantes. El alelo HLA-DRB1*04 representaría un marcador inmunogenético que contribuiría a explicar los mecanismos endocrinos y moleculares implicados en el desarrollo de la IAS. Este es el primer caso descrito que una paciente embarazada con IAS da a luz un bebe sano heterocigota para el gen asociado a IAS. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2022-10-26 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion texto https://revistas.unc.edu.ar/index.php/med/article/view/39045 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 79 No. Suplemento JIC XXIII (2022): Suplemento JIC XXIII Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 79 Núm. Suplemento JIC XXIII (2022): Suplemento JIC XXIII Revista da Faculdade de Ciências Médicas de Córdoba; v. 79 n. Suplemento JIC XXIII (2022): Suplemento JIC XXIII 1853-0605 0014-6722 http://creativecommons.org/licenses/by-nc/4.0 |