Genomic Insights into Maturity Onset Diabetes of the Young in Mexican Patients
Overview
This study characterizes the genomic landscape of Maturity Onset Diabetes of the Young (MODY) in a Mexican cohort using Whole Exome Sequencing (WES). It identifies 14 genes with variants that can distinguish MODY from Type 2 Diabetes Mellitus (T2DM) and healthy controls.
Background
MODY is a genetically heterogeneous form of diabetes that is often misdiagnosed, leading to inappropriate treatment. Accurate diagnosis is crucial for effective management and prevention of complications. This study aims to address the understanding of the genetic basis of MODY in Latino populations.
Data Highlights
Group
MODY Variants
T2DM Variants
HC Variants
MODY
75-100%
Similar frequencies
Similar frequencies
Key Findings
14 genes were identified with variants that distinguish MODY from T2DM and healthy controls.
Variants in MAP2K3, SYT15, KCNJ12, PEX5, and TPTE were present in 75-100% of MODY cases.
MODY genes showed low discrimination utility in the studied cohort.
Enrichment analysis indicated involvement in synaptic vesicle trafficking and insulin signaling pathways.
Up to 77% of patients may not have variants in known MODY genes.
Clinical Implications
The findings indicate that current diagnostic tools may not adequately identify MODY in non-Caucasian populations.
Conclusion
This study highlights the complex genetic architecture of MODY in the Mexican population.
by Alberto Moscona-Nissan, Daniel Marrero-Rodríguez, Sergio Andonegui-Elguera, Eduardo Salif Luna-Ávila, Florencia Martínez-Mendoza, Sandra Vela-Patiño, Itzel Ramírez-Ramos, Silvia Hinojosa-Alvarez, Jesus Hernandez-Perez, Rocio A. Chavez-Santoscoy, Sophia Mercado-Medrez, Kapy S. León-Wu, Regina De Miguel-Ibáñez, Moisés Mercado, Keiko Taniguchi-Ponciano, Aldo Ferreira-Hermosillo
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