Repositorio Institucional
Repositorio Institucional
CONICET Digital
  • Inicio
  • EXPLORAR
    • AUTORES
    • DISCIPLINAS
    • COMUNIDADES
  • Estadísticas
  • Novedades
    • Noticias
    • Boletines
  • Ayuda
    • General
    • Datos de investigación
  • Acerca de
    • CONICET Digital
    • Equipo
    • Red Federal
  • Contacto
JavaScript is disabled for your browser. Some features of this site may not work without it.
  • INFORMACIÓN GENERAL
  • RESUMEN
  • ESTADISTICAS
 
Evento

Systematic analysis of thyroperoxidase variations in patients with congenital hypothyroidism

Molina, Maricel FernandaIcon ; Adrover, EzequielaIcon ; Olcese, María Cecilia; Gomes Pio, MauricioIcon ; Siffo, SofíaIcon ; Miras, Mirta Beatriz; Chiesa, Ana ElenaIcon ; Gonzalez Sarmiento, Rogelio; Targovnik, Hector ManuelIcon ; Rivolta, Carina MarcelaIcon
Tipo del evento: Reunión
Nombre del evento: LXV Reunión Anual de la Sociedad Argentina de Investigación Clínica; LXVIII Reunión Anual de la Sociedad Argentina de Inmunología y Reunión Anual de la Sociedad Argentina Fisiología
Fecha del evento: 10/11/2020
Institución Organizadora: Sociedad Argentina de Investigación Clínica; Sociedad Argentina de Inmunología; Sociedad Argentina Fisiología;
Título de la revista: Medicina (Buenos Aires)
Editorial: Fundación Revista Medicina
ISSN: 0025-7680
e-ISSN: 1669-9106
Idioma: Inglés
Clasificación temática:
Genética Humana

Resumen

The congenital hypothyroidism (CH) is the most common endocrine disease characterized by low levels of circulating thyroid hormones. The prevalence of CH is 1 in 2000-3000 live births. Variants in Thyroperoxidase (TPO) appear to be one of the causes of dyshormonogenesis with permanent CH. TPO is a membrane-bound glycoprotein. The TPO gene is located in chromosome 2 [2p25], comprises 17 exons, covers approximately 150 kb of genomic DNA and encodes 933 amino acids. The TPO enzyme activity depends on both proper folding and membrane insertion, and an intact catalytic site. In the present work, we present the analysis of 25 patients from 20 unrelated families with TPO variants identified in our laboratorory. We include the first case in which a variant in the TPO gene was identified worldwide, an argentinian boy presenting a homozygous duplication of a tetranucleotide GGCC in exon 8. All patients underwent clinical and biochemical evaluation. Sanger technique as well NGS technique using a custom panel targeting 8 genes associated with dishormonogenesis (TPO, IYD, SLC26A4, TG, DUOX2, DUOXA2, TSHR, SLC5A5) and bioinformatics analysis were performed. Our observation shows that variants in both TPO alleles were found in 16 families (2 as homozygote and 14 as heterozygote compound), whereas in 3 families only 1 variant was detected. In the remaing family, 1 TPO allele and 1 IYD allele showed variants. 20 different variants were identified of which 14 were novel (9 missense, 2 deletions, 1 nonsense, 1 duplication and 1 splicing). Additionally, we present an updated database from international bibliography and the Genome Aggregation Database (gnomAD). Our findings suggest monoallelic variants and oligogenic inheritance are also involved in the pathogenesis of CH. The identification and characterization of TPO variants is undoubtedly a valuable approach to study the TPO structure/function relations and for the elaboration of a clinical diagnosis and genetic counseling.
Palabras clave: THYROPEROXIDASE , CONGENITAL HYPOTHYROIDISM , VARIANTS
Ver el registro completo
 
Archivos asociados
Thumbnail
 
Tamaño: 3.833Mb
Formato: PDF
.
Descargar
Licencia
info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/187174
URL: https://medicinabuenosaires.com/revistas/vol80-20/s5/Mv80s5.pdf
Colecciones
Eventos(INIGEM)
Eventos de INSTITUTO DE INMUNOLOGIA, GENETICA Y METABOLISMO
Eventos(CEDIE)
Eventos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Citación
Systematic analysis of thyroperoxidase variations in patients with congenital hypothyroidism; LXV Reunión Anual de la Sociedad Argentina de Investigación Clínica; LXVIII Reunión Anual de la Sociedad Argentina de Inmunología y Reunión Anual de la Sociedad Argentina Fisiología; Mar del Plata; Argentina; 2020; 1-5
Compartir
Estadísticas
Visualizaciones: 15
Descargas: 2

Enviar por e-mail
Separar cada destinatario (hasta 5) con punto y coma.
  • Facebook
  • Twitter
  • Instagram
  • YouTube
  • Sound Cloud

Los contenidos del CONICET están licenciados bajo Creative Commons Reconocimiento 2.5 Argentina License

Ministerio
https://www.conicet.gov.ar/ - CONICET

Inicio

Explorar

  • Autores
  • Disciplinas
  • Comunidades

Estadísticas

Novedades

  • Noticias
  • Boletines

Ayuda

Acerca de

  • CONICET Digital
  • Equipo
  • Red Federal

Contacto

Godoy Cruz 2290 (C1425FQB) CABA – República Argentina – Tel: +5411 4899-5400 repositorio@conicet.gov.ar
TÉRMINOS Y CONDICIONES