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Related Experiment Video

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Differentiation of Human Pluripotent Stem Cells Into Pancreatic Beta-Cell Precursors in a 2D Culture System

Differentiation of Human Pluripotent Stem Cells Into Pancreatic Beta-Cell Precursors in a 2D Culture System

Published on: December 16, 2021

From genotype to human β cell phenotype and beyond.

Piero Marchetti¹, Farooq Syed, Mara Suleiman

¹Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy. piero.marchetti@med.unipi.it

|October 18, 2012

Summary

Genetic variations influence type 2 diabetes mellitus (T2DM) primarily through effects on beta cell function. This review explores how T2DM gene polymorphisms impact human islet cells, considering clinical relevance and epigenetics.

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Differentiation of Human Pluripotent Stem Cells into Insulin-Producing Islet Clusters

Differentiation of Human Pluripotent Stem Cells into Insulin-Producing Islet Clusters

Published on: June 23, 2023

Area of Science:

Endocrinology
Genetics
Metabolic Diseases

Background:

Type 2 diabetes mellitus (T2DM) is a complex, polygenic condition influenced by genetic and environmental factors.
Numerous genes and loci have been linked to T2DM, with many implicated in beta cell dysfunction.
Understanding the genetic basis of T2DM is crucial for developing effective therapeutic strategies.

Purpose of the Study:

To review and discuss the direct effects of polymorphisms in T2DM-associated genes on human islet cell properties.
To explore the clinical implications of these genetic variations in T2DM.
To examine the role of epigenetic mechanisms in T2DM pathogenesis.

Main Methods:

Literature review of studies investigating T2DM-associated gene polymorphisms.
Analysis of research on the functional impact of these polymorphisms on human islet cells.
Synthesis of information regarding clinical relevance and epigenetic factors.

Main Results:

Polymorphisms in T2DM-associated genes significantly alter human islet cell function, particularly beta cell properties.
These genetic variations have direct clinical implications for T2DM risk and progression.
Epigenetic mechanisms play a role in modulating the effects of T2DM-associated genes.

Conclusions:

Genetic polymorphisms in T2DM-associated loci directly impact human islet cell function, contributing to disease pathogenesis.
The interplay of genetics, environment, and epigenetics is central to T2DM development.
Further research into these mechanisms can inform T2DM prevention and treatment.