The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)
Abstract Background The most common type of monogenic diabetes is maturity-onset diabetes of the young (MODY), a clinically and genetically heterogeneous group of endocrine disorders that affect 1–5% of all patients with diabetes mellitus. MODY is characterized by autosomal dominant inheritance but...
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| Format: | Article |
| Language: | English |
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BMC
2020-11-01
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| Series: | Clinical Diabetes and Endocrinology |
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| Online Access: | http://link.springer.com/article/10.1186/s40842-020-00112-5 |
| _version_ | 1818115543281958912 |
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| author | Ken Munene Nkonge Dennis Karani Nkonge Teresa Njeri Nkonge |
| author_facet | Ken Munene Nkonge Dennis Karani Nkonge Teresa Njeri Nkonge |
| author_sort | Ken Munene Nkonge |
| collection | DOAJ |
| description | Abstract Background The most common type of monogenic diabetes is maturity-onset diabetes of the young (MODY), a clinically and genetically heterogeneous group of endocrine disorders that affect 1–5% of all patients with diabetes mellitus. MODY is characterized by autosomal dominant inheritance but de novo mutations have been reported. Clinical features of MODY include young-onset hyperglycemia, evidence of residual pancreatic function, and lack of beta cell autoimmunity or insulin resistance. Glucose-lowering medications are the main treatment options for MODY. The growing recognition of the clinical and public health significance of MODY by clinicians, researchers, and governments may lead to improved screening and diagnostic practices. Consequently, this review article aims to discuss the epidemiology, pathogenesis, diagnosis, and treatment of MODY based on relevant literature published from 1975 to 2020. Main body The estimated prevalence of MODY from European cohorts is 1 per 10,000 in adults and 1 per 23,000 in children. Since little is known about the prevalence of MODY in African, Asian, South American, and Middle Eastern populations, further research in non-European cohorts is needed to help elucidate MODY’s exact prevalence. Currently, 14 distinct subtypes of MODY can be diagnosed through clinical assessment and genetic analysis. Various genetic mutations and disease mechanisms contribute to the pathogenesis of MODY. Management of MODY is subtype-specific and includes diet, oral antidiabetic drugs, or insulin. Conclusions Incidence and prevalence estimates for MODY are derived from epidemiologic studies of young people with diabetes who live in Europe, Australia, and North America. Mechanisms involved in the pathogenesis of MODY include defective transcriptional regulation, abnormal metabolic enzymes, protein misfolding, dysfunctional ion channels, or impaired signal transduction. Clinicians should understand the epidemiology and pathogenesis of MODY because such knowledge is crucial for accurate diagnosis, individualized patient management, and screening of family members. |
| first_indexed | 2024-12-11T04:08:17Z |
| format | Article |
| id | doaj.art-0b200ed7d3ca43c194ffdf0d46a0d121 |
| institution | Directory Open Access Journal |
| issn | 2055-8260 |
| language | English |
| last_indexed | 2024-12-11T04:08:17Z |
| publishDate | 2020-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Clinical Diabetes and Endocrinology |
| spelling | doaj.art-0b200ed7d3ca43c194ffdf0d46a0d1212022-12-22T01:21:28ZengBMCClinical Diabetes and Endocrinology2055-82602020-11-016111010.1186/s40842-020-00112-5The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)Ken Munene Nkonge0Dennis Karani Nkonge1Teresa Njeri Nkonge2University of NairobiUniversity of NairobiMcMaster UniversityAbstract Background The most common type of monogenic diabetes is maturity-onset diabetes of the young (MODY), a clinically and genetically heterogeneous group of endocrine disorders that affect 1–5% of all patients with diabetes mellitus. MODY is characterized by autosomal dominant inheritance but de novo mutations have been reported. Clinical features of MODY include young-onset hyperglycemia, evidence of residual pancreatic function, and lack of beta cell autoimmunity or insulin resistance. Glucose-lowering medications are the main treatment options for MODY. The growing recognition of the clinical and public health significance of MODY by clinicians, researchers, and governments may lead to improved screening and diagnostic practices. Consequently, this review article aims to discuss the epidemiology, pathogenesis, diagnosis, and treatment of MODY based on relevant literature published from 1975 to 2020. Main body The estimated prevalence of MODY from European cohorts is 1 per 10,000 in adults and 1 per 23,000 in children. Since little is known about the prevalence of MODY in African, Asian, South American, and Middle Eastern populations, further research in non-European cohorts is needed to help elucidate MODY’s exact prevalence. Currently, 14 distinct subtypes of MODY can be diagnosed through clinical assessment and genetic analysis. Various genetic mutations and disease mechanisms contribute to the pathogenesis of MODY. Management of MODY is subtype-specific and includes diet, oral antidiabetic drugs, or insulin. Conclusions Incidence and prevalence estimates for MODY are derived from epidemiologic studies of young people with diabetes who live in Europe, Australia, and North America. Mechanisms involved in the pathogenesis of MODY include defective transcriptional regulation, abnormal metabolic enzymes, protein misfolding, dysfunctional ion channels, or impaired signal transduction. Clinicians should understand the epidemiology and pathogenesis of MODY because such knowledge is crucial for accurate diagnosis, individualized patient management, and screening of family members.http://link.springer.com/article/10.1186/s40842-020-00112-5Beta cellDiagnosisMODYMonogenic diabetesPathogenesisPrevalence |
| spellingShingle | Ken Munene Nkonge Dennis Karani Nkonge Teresa Njeri Nkonge The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY) Clinical Diabetes and Endocrinology Beta cell Diagnosis MODY Monogenic diabetes Pathogenesis Prevalence |
| title | The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY) |
| title_full | The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY) |
| title_fullStr | The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY) |
| title_full_unstemmed | The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY) |
| title_short | The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY) |
| title_sort | epidemiology molecular pathogenesis diagnosis and treatment of maturity onset diabetes of the young mody |
| topic | Beta cell Diagnosis MODY Monogenic diabetes Pathogenesis Prevalence |
| url | http://link.springer.com/article/10.1186/s40842-020-00112-5 |
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