Related Experiment Video

Updated: Jun 29, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Molecular background and clinical characteristics of HNF1A MODY in a Polish population

J Skupien1, S Gorczynska-Kosiorz, T Klupa

  • 1Department of Metabolic Diseases, Jagiellonian University, Medical College, 15, Kopernika Street, 31-501 Krakow, Poland.

Diabetes & Metabolism
|October 8, 2008
PubMed
Abstract

Insights

Hepatocyte Nuclear Factor 1-Alpha (HNF1A) gene mutations are a common cause of monogenic diabetes (MODY) in Poland. This study found a high prevalence of diabetic complications and renal abnormalities in HNF1A mutation carriers.

Area of Science:

  • Genetics
  • Endocrinology
  • Nephrology

Background:

  • Monogenic diabetes, particularly Maturity-Onset Diabetes of the Young (MODY), has diverse genetic underpinnings.
  • Mutations in the HNF1A gene are the most common genetic cause of MODY worldwide.
  • Understanding the molecular basis of diabetes is crucial for effective clinical management.

Purpose of the Study:

  • To investigate the genetic and clinical features of HNF1A-MODY in the Polish population.
  • To determine the prevalence of diabetic complications in individuals with HNF1A mutations.
  • To assess the occurrence of renal malformations in HNF1A mutation carriers.

Main Methods:

  • Identified 47 families with early-onset, autosomal-dominant diabetes meeting MODY criteria.
  • Conducted direct sequencing of the HNF1A gene for mutation screening.
  • Collected clinical, anthropometric, and biochemical data from patients.
  • Performed ultrasound examinations to detect renal malformations in mutation carriers.

Main Results:

  • Identified 13 families with HNF1A-MODY, involving 56 mutation carriers (46 with diabetes).
  • Average HbA1c among diabetic patients was 7.5%.
  • Prevalence of diabetic retinopathy was 47.7%, and diabetic nephropathy was 25%.
  • Renal developmental malformations were found in 5 carriers (3.6%), including two with a single functioning kidney.

Conclusions:

  • HNF1A mutations are a frequent cause of MODY in the Polish population.
  • HNF1A mutation carriers in this cohort exhibited a high incidence of diabetic complications.
  • Renal developmental abnormalities are a notable finding in some HNF1A mutation carriers.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...