Article
Endocrinology & Metabolism
Zanetta Toomata, Megan Leask, Mohanraj Krishnan, Murray Cadzow, Nicola Dalbeth, Lisa K. K. Stamp, Janak de Zoysa, Tony Merriman, Phillip Wilcox, Ofa Dewes, Rinki Murphy
Summary: The aim of this study was to examine the prevalence of monogenic diabetes, beta-cell autoantibodies, and the pre-test probability of monogenic diabetes in Maori and Pacific adults diagnosed with type 2 diabetes. The study found no likely pathogenic genetic variants and a low prevalence of beta-cell autoantibodies. The MODY probability calculator overestimates the likelihood of monogenic diabetes in this population.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Asma A. Elashi, Salman M. Toor, Ilhame Diboun, Yasser Al-Sarraj, Shahrad Taheri, Karsten Suhre, Abdul Badi Abou-Samra, Omar M. E. Albagha
Summary: Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes mellitus. This study estimated the prevalence and genetic spectrum of MODY in the Middle Eastern population of Qatar through whole-genome sequencing, identifying known and potentially novel disease-causing mutations. The study found that MODY accounts for approximately 2.2-3.4% of diabetes patients in Qatar and highlighted the need for further research on the newly identified mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Francesca Harrington, Mark Greenslade, Kevin Colclough, Ryan Paul, Craig Jefferies, Rinki Murphy
Summary: This study aims to evaluate the diagnostic yield of genetic testing for monogenic diabetes in the New Zealand population using single gene and gene panel-based approaches. It also assesses the effectiveness of the MODY pre-test probability calculator in guiding referrals for testing, and examines the referral rates for Maori/Pacific ethnicities compared to NZ European. The results show variable detection rates across genes, with an overall average detection rate of 12% for single gene or small gene panel testing. A new testing algorithm is proposed, suggesting the use of a large gene panel for patients without syndromic features who score a pre-test MODY probability of above 20%.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Brandon Chalazan, Emma Freeth, Arezoo Mohajeri, Krishnan Ramanathan, Matthew Bennett, Jagdeep Walia, Laura Halperin, Thomas Roston, Julieta Lazarte, Robert A. Hegele, Anna Lehman, Zachary Laksman
Summary: This study aims to determine the prevalence of likely pathogenic and pathogenic variants from AF genes in early-onset AF patients. The results suggest a potential clinical utility for offering different screening and treatment regimens in AF patients with a genetic defect.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Endocrinology & Metabolism
Sunita M. C. De Sousa, Kathy H. C. Wu, Kevin Colclough, Lesley Rawlings, Andrew Dubowsky, Melissa Monnik, Nicola Poplawski, Hamish S. Scott, Michael Horowitz, David J. Torpy
Summary: This study aimed to determine the prevalence of monogenic diabetes in an Australian referral cohort and found that modern genetic testing produces positive results in individuals with suspected monogenic diabetes, highlighting the value of genetic testing for this condition. The study also showed that the EMPC scores have a certain accuracy in predicting monogenic diabetes, but there may be differences between ethnic subsets.
ACTA DIABETOLOGICA
(2023)
Article
Biotechnology & Applied Microbiology
Deniz Kanca Demirci, Feyza Darendeliler, Sukran Poyrazoglu, Asli Derya Kardelen Al, Nurdan Gul, Yildiz Tutuncu, Gizem Gulfidan, Kazim Yalcin Arga, Canan Cacina, Oguz Ozturk, Hulya Yilmaz Aydogan, Ilhan Satman
Summary: The study identified 43 MODY-specific genetic variations, including novel missense mutations associated with MODY. These findings contribute to a better understanding of clinical heterogeneity in MODY and monogenic childhood diabetes. Further research is needed to explore the potential for novel diagnostics and personalized medicine in MODY.
OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY
(2021)
Review
Health Care Sciences & Services
Hazar Younis, Se Eun Ha, Brian G. Jorgensen, Arushi Verma, Seungil Ro
Summary: Maturity-Onset Diabetes of the Young (MODY) is a rare form of diabetes characterized by early onset, autosomal dominant inheritance, and insufficient insulin secretion. 14 subtypes of MODY have been identified, but misdiagnosis often occurs due to overlapping clinical features and limited knowledge of the condition.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Madalena Sousa, Teresa Rego, Jacome Bruges Armas
Summary: Research highlights the crucial role of genetics in diabetes, distinguishing monogenic diabetes from common types. Although the exact prevalence of MODY is unknown, its significance in personalized medicine and familial genetics is evident.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Kevin Colclough, Sian Ellard, Andrew Hattersley, Kashyap Patel
Summary: Genetic testing for monogenic diabetes is primarily focused on mutations in maturity-onset diabetes of the young (MODY) genes, but this approach may miss mutations in patients without typical features. A study found that mutations in syndromic diabetes genes, particularly m.3243A>G and HNF1B, accounted for a significant portion of monogenic diabetes cases and often overlapped with non-syndromic monogenic diabetes.
Article
Endocrinology & Metabolism
Kashyap A. Patel, Mehmet N. Ozbek, Melek Yildiz, Tulay Guran, Cemil Kocyigit, Sezer Acar, Zeynep Siklar, Muge Atar, Kevin Colclough, Jayne Houghton, Matthew B. Johnson, Sian Ellard, Sarah E. Flanagan, Filiz Cizmecioglu, Merih Berberoglu, Korcan Demir, Gonul Catli, Serpil Bas, Teoman Akcay, Huseyin Demirbilek, Michael N. Weedon, Andrew T. Hattersley
Summary: This study found that recessively inherited mutations are a common cause of monogenic diabetes in populations with high rates of consanguinity. Present testing strategies focusing on MODY genes do not identify all affected individuals. Including recessive genes in genetic panels and selecting children for testing based on certain non-autoimmune extra-pancreatic features in addition to current criteria is crucial to detect all cases of monogenic pediatric diabetes.
Review
Endocrinology & Metabolism
Sama Samadli, Qiaoli Zhou, Bixia Zheng, Wei Gu, Aihua Zhang
Summary: Monogenic diabetes provides simplified models to understand complex molecular processes in beta-cells and explore the roles of proteins from a single protein perspective. The identification and understanding of different types of MODY have greatly contributed to advancements in diabetes treatment and stem cell research. Functional analysis of MODY-causing proteins has enhanced our understanding of cellular processes and regulation, leading to better care for diabetes patients and potential new treatment strategies.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Naama Pollack-Schreiber, Benjamin Udoka Nwosu, Parissa Salemi
Summary: The frequent misdiagnosis of MODY subtypes emphasizes the importance of clarifying the clinical spectrum of the disease phenotypes in suspected subjects for accurate diagnosis and management plans. This case report illustrates the identification of a gene variant in the HNF1A gene, initially reported as a variant of uncertain significance and later upgraded to a likely pathogenic variant. It provides valuable clinical information and management approaches for the wider scientific community.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Chaoyan Tang, Liheng Meng, Ping Zhang, Xinghuan Liang, Chaozhi Dang, Hui Liang, Junfeng Wu, Haiyun Lan, Yingfen Qin
Summary: This study identified a novel missense variant of the ABCC8 gene in a Chinese family, and found that the family members responded well to treatment with sulfonylureas.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Medicine, General & Internal
Yan Chen, Jing Zhao, Xia Li, Zhiguo Xie, Gan Huang, Xiang Yan, Houde Zhou, Li Zheng, Tao Xu, Kaixin Zhou, Zhiguang Zhou
Summary: The prevalence of Maturity-onset diabetes of the young (MODY) in young adults with phenotypic type 2 diabetes (T2DM) in China was found to be 0.74%, with HNF1A, GCK, and HNF4A being the most common subtypes. Clinical characteristics played a limited role in recognizing MODY.
CHINESE MEDICAL JOURNAL
(2023)
Article
Medical Laboratory Technology
Jieying Liu, Junling Fu, Ziyan Xie, Lu Ding, Dongmei Wang, Miao Yu, Qian Zhang, Ting Xie, Xinhua Xiao
Summary: Novel serum metabolic biomarkers were identified to distinguish maturity-onset diabetes of the young (MODY) and explore its mechanism. Four significantly fluctuated metabolites were found between groups, and glycerophosphocholine was selected as a diagnostic biomarker. The combination of metabolites also showed good diagnostic value.
CLINICA CHIMICA ACTA
(2023)