DİABETES MELLİTUS İLE İLİŞKİLİ GENETİK FAKTÖRLER

Abstract

Diabetes Mellitus (DM) pankreastaki beta hücrelerinden yeterince insülin salgılanamaması veya salgılanan insülinin yeterli derecede kullanılamaması sonucu oluşan kronik metabolizma bozukluğu hastalığı şeklinde tanımlanmaktadır. Uluslararası Diyabet Federasyonunun sınıflandırılmasına göre diyabet; Tip 1 DM, Tip 2 DM, Gestasyonel DM ve diğer özel DM şeklinde dört ayrı tipe ayrılmaktadır. Dördüncü grup; beta hücre işlevinde genetik kusurlar veya tek gen mutasyonu sonucu ortaya çıkan, insülin salınımındaki bozukluk ile karakterize edilen heterojen hastalık grubu ‘monogenik diyabet’ şeklinde de tanımlanmaktır. Monogenik diyabetler içerisinde en sık gözleneni ise MODY (Maturity Onset Diabetes of the Young) olarak bilinen Gençlikte Ortaya Çıkan Erişkin Tip Diyabet’tir. DM’nin doğru sınıflandırılması, doğru tanı ve bu sayede en uygun tedavi yöntemlerini mümkün kılmaktadır. DM ilişkili genetik etmenlerin aydınlatılmasında; ikiz çalışmaları, aile çalışmaları, toplum çalışmaları, genom çapında ilişkilendirme çalışmaları (GWAS) ve aday genlerde mutasyon taramaları yapılarak ilişkili genler belirlenmektedir. DM ilişkili genetik ve genetik olmayan faktörlerin belirlenmesi yönetilmesi güç olan bu hastalık için yeni tedavi hedeflerinin tespit edilmesi açısından da önem arz etmektedir. Bu derleme çalışmasında bugüne kadar ki çalışmalarda tespit edilmiş olan DM ilişkili genetik faktörler üzerinde durulacaktır.

Keywords

• Diabetes Mellitus
• Genetik
• Mutasyon

GENETIC FACTORS ASSOCIATED WITH DIABETES MELLITUS

Abstract

Diabetes Mellitus (DM) is defined as a chronic metabolic disorder resulting from the insufficient secretion of insulin from the pancreatic beta cells or the inadequate utilization of the secreted insulin. According to the classification of the International Diabetes Federation, diabetes is divided into four distinct types: Type 1 DM, Type 2 DM, Gestational DM, and other specific DM. This fourth group, categorized as monogenic diabetes, is characterized by defects in beta cell function or single gene mutations leading to disruptions in insulin release. Among monogenic diabetes, the most commonly observed is Maturity Onset Diabetes of the Young (MODY). Accurate classification of DM is essential for correct diagnosis and, consequently, the implementation of the appropriate treatment methods. In the exploration of genetic factors associated with DM, twin studies, population studies, genome-wide association studies (GWAS), and genome screenings are conducted to identify candidate genes. Determining both genetic and non-genetic factors related to DM is also important for identifying new treatment targets for this challenging disease. This review will focus on the genetic factors associated with DM that have been identified in previous studies.

Keywords

• Diabetes Mellitus
• Genetic
• Mutation

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