MODY – our research model

MODY (maturity-onset diabetes of the young) is caused by pancreatic beta cell dysfunction due to a single gene mutation affecting both the prenatal and postnatal pancreas development. Importantly, more than 90 % of MODY mutation carriers will develop diabetes during the course of their life, hence non-diabetic, younger, family members carrying the mutation are assumed to be in a prediabetic state (Fajans, Bell et al. 2001). The interest of studying MODY patient-derived samples is based on several advantages. First, the monofactorial/monogenic cause of the disease, also characterized by the absence of the immune attack (unlike T1D) and insulin resistance (unlike T2D), allows an unambiguous regulatory mechanism characterization. Secondly, the inheritability status of the disease, allows the possibility of using healthy family members as controls, as such diminishing the risk of the genetic background interference. Third, the presence of an age-dependent onset of diabetes grants a very interesting model for studying the cellular and molecular mechanisms of the aging process on genetic disease progression and development.

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