The Association Between MODY and the Immune System
DOI:
https://doi.org/10.64135/w1z1jf84Keywords:
maturity-onset diabetes of the young (MODY), Immune system, DNAJC3, Personalized therapyAbstract
Abstract
This article explores the relationship between maturity-onset diabetes of the young (MODY) and the immune system. MODY is a monogenic form of diabetes characterized by autosomal dominant inheritance. To date, 11 causative genes have been identified, and mutations in each gene lead to different MODY subtypes with distinct clinical manifestations. Studies have shown that some patients with MODY may present with positive autoimmune markers; however, the presence of these markers is more often related to environmental influences or coincidental factors rather than being directly caused by specific genetic mutations. Certain MODY patients may also exhibit immune dysfunction. For example, patients with DNAJC3 mutations may present with diabetes, neurodegenerative changes, hearing loss, and hypothyroidism. Genetic testing is the key tool for diagnosing MODY and is essential for achieving early diagnosis and precision treatment. Future studies will further investigate the molecular mechanisms of MODY and the associated immune abnormalities, thereby providing a basis for personalized therapy.
Fig. Abstract
References
1.Lee, Y. and K. Lee, Pancreatic Diseases: Genetics and Modeling Using Human Pluripotent Stem Cells. Int J Stem Cells, 2024. 17(3): p. 253-269.
2.Leslie, R.D., et al., Diabetes at the crossroads: relevance of disease classification to pathophysiology and treatment. Diabetologia, 2016. 59(1): p. 13-20.
3.Perry, D.J., et al., A genomic data archive from the Network for Pancreatic Organ donors with Diabetes. Sci Data, 2023. 10(1): p. 323.
4.Zhou, P., et al., A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family. Iran J Public Health, 2016. 45(2): p. 170-8.
5.Ingegnosi, C., et al., Hyperglycemia in celiac disease: not always pretype 1 diabetes? Pediatr Diabetes, 2008. 9(4 Pt 1): p. 335-7.
6.Xiao, X., et al., Causal linkage between type 2 diabetes mellitus and inflammatory bowel disease: an integrated Mendelian randomization study and bioinformatics analysis. Front Endocrinol (Lausanne), 2024. 15: p. 1275699.
7.Heneberg, P., et al., Low Frequencies of Autoimmunity-Associated PTPN22 Polymorphisms in MODY Patients, Including Those Transiently Expressing Islet Cell Autoantibodies. Int Arch Allergy Immunol, 2015. 166(3): p. 189-98.
8.Del Bosque-Plata, L., M. Amin, and C. Gragnoli, PSMD9 is linked to T2D age of onset, years of isolated and combined insulin therapy, irregular menses, and hot flashes. Eur Rev Med Pharmacol Sci, 2022. 26(23): p. 8873-8878.
9.Calcaterra, V., et al., The coexistence of type 1 diabetes, MODY2 and metabolic syndrome in a young girl. Acta Diabetol, 2012. 49(5): p. 401-4.
10.Kim, J.H., et al., Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center. BMC Pediatr, 2021. 21(1): p. 108.
11.Carry, P.M., et al., Changes in the Coexpression of Innate Immunity Genes During Persistent Islet Autoimmunity Are Associated With Progression of Islet Autoimmunity: Diabetes Autoimmunity Study in the Young (DAISY). Diabetes, 2022. 71(9): p. 2048-2057.
12.Butnariu, L.I., et al., The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients. Int J Mol Sci, 2024. 25(12).
13.Raile, K., et al., Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. J Clin Endocrinol Metab, 2009. 94(7): p. 2658-64.
14.Alwatban, S., et al., Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy. Front Endocrinol (Lausanne), 2021. 12: p. 742278.
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