title: Normal thyroglobulin and thyroperoxidase gene expression in thyroid congenital defective thyroglobulin synthesis.
abstract: We have studied a member (JBM) of a family MO previously described, with congenital goiter, hypothyroidism, and presence of hyposialylated Tg in the follicular lumen. Other congenital goiters (MA and JNA) with virtual absence of Tg were studied similarly. The presence of apparently normal-sized Tg in JBM tissue was confirmed in the present study by radioimmunoassay, Sephacryl S300 column chromatography, immunoelectrophoresis, and SDS agarose gel electrophoresis. Dot blot hybridization analysis with Tg and TPO probes indicated that mRNA hybridization levels of JBM tissue were similar to control thyroid tissues. Congenital goiter tissues showed relatively lower TSH receptor mRNA content in comparison with normal thyroid tissues. DNA was digested with five restriction endonucleases (Taq I, Eco Rv, Pvu II, Pst I, and Eco RI), and the results revealed polymorphisms previously described with the Tg gene. No significant differences in the TPO Pst I pattern were observed in comparison with control samples. We conclude that no major alterations of the Tg and TPO gene expression are detectable and that no significant deletions of these genes are present. The biochemical abnormality in the JBM Tg molecule may be a posttranslational error during the assembly of the protein.
authors.affiliation: Laboratorio de Biologia Molecular, Hospital de Clinicas José de San Martin, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina.
authors.forename: H M
authors.initials: HM
authors.lastname: Targovnik
authors.forename: V
authors.initials: V
authors.lastname: Varela
authors.forename: C
authors.initials: C
authors.lastname: Abatangelo
authors.forename: B L
authors.initials: BL
authors.lastname: Wajchenberg
authors.forename: G
authors.initials: G
authors.lastname: Medeiros-Neto
mesh_terms: D015152:Blotting, Northern; D015139:Blotting, Southern; D002850:Chromatography, Gel; D004247:DNA / Q000032:analysis; D004587:Electrophoresis, Agar Gel; D015870:Gene Expression; D006042:Goiter / Q000151:congenital / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology; D007122:Immunoelectrophoresis; D007453:Iodide Peroxidase / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011499:Protein Processing, Post-Translational; D012313:RNA / Q000032:analysis; D011863:Radioimmunoassay; D013954:Thyroglobulin / Q000096:biosynthesis* / Q000235:genetics; D013961:Thyroid Gland / Q000378:metabolism; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood; D014284:Triiodothyronine / Q000097:blood
chemical_list: D014284:Triiodothyronine; D012313:RNA; D013972:Thyrotropin; D004247:DNA; D013954:Thyroglobulin; D007453:Iodide Peroxidase; D013974:Thyroxine