New HNF‐1α nonsense mutation causes maturity‐onset diabetes of the young type 3
نویسندگان
چکیده
Viviane Nogaroto, Paulo Vinicius Svidnicki, Naieli Bonatto, Fábio Quirillo Milléo, Mara Cristina de Almeida, Marcelo Ricardo Vicari, Roberto Ferreira Artoni I Departamento de Biologia Estrutural, Molecular e Genética, Universidade Estadual de Ponta Grossa, Ponta Grossa, Paraná, Brazil. II Programa de PósGraduação em Genética, Universidade Federal do Paraná, Curitiba, Paraná, Brazil. III Departamento de Cirurgia, Hospital Vicentino da Sociedade Beneficente São Camilo, Ponta Grossa, Paraná, Brazil.
منابع مشابه
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).
Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous subtype of non-insulin-dependent diabetes mellitus (NIDDM) characterised by early onset, autosomal dominant inheritance and a primary defect in insulin secretion. Recent studies have shown that mutations in the two functionally related transcription factors, hepatocyte nuclear factor 4 alpha (HNF-4alpha) and hepatocyte n...
متن کاملDifferential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation.
Hepatocyte nuclear factor 1-α (HNF-1α) is a homeodomain transcription factor expressed in a variety of tissues (including liver and pancreas) that regulates a wide range of genes. Heterozygous mutations in the gene encoding HNF-1α (HNF1A) cause familial young-onset diabetes, also known as maturity-onset diabetes of the young, type 3 (MODY3). The variability of the MODY3 clinical phenotype can b...
متن کاملDiagnosis of HNF-1α mutations on a PNA zip-code microarray by single base extension
In the present study, we exploited the superior features of peptide nucleic acids (PNAs) to develop an efficient PNA zip-code microarray for the detection of hepatocyte nuclear factor-1alpha (HNF-1alpha) mutations that cause type 3 maturity onset diabetes of the young (MODY). A multi-epoxy linker compound was synthesized and used to achieve an efficient covalent linking of amine-modified PNA to...
متن کاملHepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.
Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous monogenic disorder characterized by autosomal dominant inheritance, onset usually before 25 yr of age, and abnormal pancreatic beta-cell function. Mutations in the hepatocyte nuclear factor(HNF)-4alpha/MODY1, glucokinase/MODY2, and HNF-1alpha/MODY3 genes can cause this form of diabetes. In contrast to the glucokinase and...
متن کاملβ-Cell-Targeted Expression of a Dominant-Negative Hepatocyte Nuclear Factor-1α Induces a Maturity-Onset Diabetes of the Young (MODY)3-Like Phenotype in Transgenic Mice.
Mutations in the transcription factor hepatocyte nuclear factor-1 (HNF-1 ) cause maturity-onset diabetes of the young 3, a severe form of diabetes characterized by pancreatic -cell dysfunction. We have used targeted expression of a dominantnegative mutant of HNF-1 to specifically suppress HNF-1 function in -cells of transgenic mice. We show that males expressing the mutant protein became overtl...
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