Abstract
Abstract- The pandemic of metabolic disorders is accelerating in the urbanized world posing huge burden to health and economy. The key pioneer to most of the metabolic disorders is insulin dependent diabetes mellitus or Type 1 Diabetes Mellitus (T1DM) and non-insulin dependent diabetes mellitus commonly known as Type 2 Diabetes Mellitus (T2DM). Both of these forms of diabetes are polygenic and multifactorial. A newly discovered form of diabetes is Maturity Onset Diabetes of the young (MODY). MODY is a monogenic form of diabetes and it is inherited as autosomal dominant disorder. Its age of onsets is at 14-25 years in individuals who have a strong family history of Type 2 Diabetes Mellitus (T2DM). In most of the MODY patients genes involved in mediating and controlling the expression of insulin are concerned. Till date eleven genes that cause MODY have been identified all over the world. But in Pakistan no genetic research has been done on MODY. The aims of the present study were to examine the prevalence and nature of mutation in three common MODY genes on the basis of their occurrence in European populations. These three MODY genes are HNF4-Alpha, GCK, and HNF1-Alpha. 22 members spanning four generations and 11 affected with MODY in Pakistani population were examined. To determine the linkage or exclusion study of the family to six known loci for MODY, a minimum of two micro satellite markers each of the candidate regions of these loci for MODY were genotyped in all the available individuals of this family. To identify genes involved in susceptibility to MODY and to discover new genes and mutations contributing to MODY in Pakistani population, Single Strand Conformation Polymorphism technique (SSCP) was used. Our findings highlighted that those unidentified MODY genes that facilitate to cause this form of diabetes in European population may play a central role for diabetes characterized by autosomal dominant transmission in Pakistani population.
Highlights
Maturity Onset Diabetes of the young (MODY) is the term that relies on the old classification of diabetes into juvenile-onset and maturity-onset diabetes
The unidentified MODY genes that facilitate to cause Maturity-onset diabetes of the young in European population may play a central role for diabetes characterized by autosomal dominant transmission in Pakistani population
From this research study it is concluded that the examined Pakistani family which is clinically diagnosed with MODY may be due to mutation in other MODY genes except the genes that are screened in the present research study for this family
Summary
MODY is the term that relies on the old classification of diabetes into juvenile-onset and maturity-onset diabetes. MODY is an ancestral form of early-onset type diabetes. It is a monogenic form of diabetes mellitus inherited in autosomal dominant mode [2, 3]). It is primarily an outcome of impaired Beta-Cells of pancreas [2, 3]. MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity [4]. It generally develops in middle age, and mainly coupled with primarily scantiness of insulin secretion [5]. These are the genes including HNF4A, encoding hepatocyte nuclear factor 4 Alpha [7], GCK, encoding glucokinase [8], HNF1A, encoding hepatocyte nuclear
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