Update on Monogenic Diabetes in Korea

Area of Science:

• Genetics
• Endocrinology
• Molecular Biology

Background:

• Monogenic diabetes, a rare form of diabetes resulting from single gene mutations, comprises an estimated 1% to 6% of all diabetes cases.
• Advances in genomic sequencing technologies have significantly improved the identification and diagnosis of monogenic diabetes.
• In Korea, research since 2001, including Sanger sequencing and whole exome sequencing, has identified numerous monogenic diabetes cases.

Purpose of the Study:

• To review the latest advancements in monogenic diabetes diagnosis and management in Korea.
• To propose an algorithm for screening patients eligible for genetic testing.
• To discuss genetic tests and non-genetic markers for accurate monogenic diabetes diagnosis.

Main Methods:

• Review of 11 Korean studies on monogenic diabetes.
• Analysis of diagnostic yield from targeted exome panel sequencing.
• Examination of common mutation types (GCK, HNF1A, HNF4A).

Main Results:

• A recent large study reported a 21.1% molecular diagnosis rate in clinically suspected monogenic diabetes patients.
• Mutations in GCK, HNF1A, and HNF4A were identified as the most frequent genetic causes.
• Genetic diagnosis is crucial for tailoring therapeutic strategies and identifying at-risk family members.

Conclusions:

• Genetic diagnosis of monogenic diabetes is essential for personalized treatment and family screening.
• Challenges remain, including patient selection criteria, genetic test interpretation, and cost.
• Further development of screening algorithms and diagnostic markers is needed to improve patient outcomes.