What is it about?

Are all autoimmune diabetes forms made equal? here we discuss how rare mutations in STAT proteins cause type 1 diabetes in humans.

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Why is it important?

Certain forms of autoimmune diabetes are probably the cause of a rare single mutation, as in this case of STAT, the cause of a few semi-rare mutations (hypothesis not yet proven), or an accumulation of several common polymorphisms + HLA susceptibility (best known). Is it possible that some patients being affected by rare/semi-rare mutations are not diagnosed properly?

Perspectives

The advancement of next-generation technologies, such as whole-exome sequencing, has allowed us to read the DNA with accuracy at a reasonable cost. Implementation of this technology in complex diseases such as type 1 diabetes might improve its diagnosis.

Georgia Fousteri
Ospedale San Raffaele

Read the Original

This page is a summary of: Type 1 Diabetes in STAT Protein Family Mutations: Regulating the Th17/Treg Equilibrium and Beyond, Diabetes, January 2019, American Diabetes Association,
DOI: 10.2337/db18-0627.
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