•  
  •  
 

Journal of Innovation in Science, Engineering and Technology

Document Type

Original Study

Abstract

Among the many risk factors for Diabetes Mellitus (DM), genetic variations play an important role. Maturity Onset Diabetes of the Young (MODY) has emerged as a monogenic form of diabetes affecting young adults. MODY can be developed before the age of 25, emphasizing the urgent need for the identification of prognostic biomarkers for the early detection. MODY3 is a sub type that can be characterized by the impaired insulin secretion. HNF1A (HNF1 homeobox A) gene variants were reported to be associated with predisposing to MODY3 subtype. We conducted a pilot study to evaluate the genetic background of the suspected MODY3 subjects in the Sri Lankan context targeting its' exon 04 region using Sanger sequencing method. We genotyped the exon 4 hotspot region of the HNF1A gene to evaluate the genetic background of individuals with suspected MODY. We identified four germline mutations in the Sri Lankan suspected MODY subjects. All of them were exonic substitution variants with heterozygous nature. Although genetic studies of MODY have been conducted in Sri Lanka, the variants identified in this study have not been reported in the Sri Lankan population before, representing a novel contribution. Our study provides the first evidence supporting the potential relevance of genetic variants as early detection biomarkers for MODY3 in the Sri Lankan context. Furthermore, our findings highlight the need for future studies with larger sample sizes to more comprehensively characterize the genetic background of individuals with suspected MODY, thereby improving understanding of the genetic risk factors influencing disease onset.

Pages

76

Last Page

80

Download

Share

COinS