New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome.
Abstract
The 3243A>G mutation in mitochondrial DNA (mtDNA) is a genetic variant that is associated with a high risk of developing diabetes during life. Enhanced aging of pancreatic beta-cells, a reduced capacity of these cells to synthesize large amounts of insulin,and a resetting of the ATP/ADP-regulated K-channel seem to be the pathogenic factors involved.
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The 3243A>G mutation in the mtDNA-encoded tRNALeu, UUR gene is associated with maternally inherited diabetes and deafness (MIDD).
“Of these, the best studied is the 3243AϾG mutation in the mtDNA-encoded tRNALeu, UUR gene, which is associated with maternally inherited diabetes and deafness (MIDD) (243,244).”
From The role of mitochondria in the pathogenesis of type 2 diabetes (2010) · cites this paper as [244]
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References 41 · Cited by 33
- Authors
- Maassen, J. A., Jahangir Tafrechi, R. S., Janssen, G. M. C., Raap, A. K., Lemkes, H. H., & ’t Hart, L. M.
- Affiliations
- Leiden University Medical Center (NL)
- Corresponding author
- Maassen, Johannes A.
- Venue
- Endocrinology and Metabolism Clinics of North America
- Publisher
- Elsevier BV
- Published
- 2006-06
- Volume
- 35
- Issue
- 2
- Pages
- 385-396
- ISSN
- 0889-8529 (ISSN-L)
- OpenAlex
- W1965032981
- Cited by
- 33
- References
- 41
- Citations by year
- 2025: 1 · 2022: 1 · 2020: 1 · 2019: 1 · 2017: 2 · 2016: 1 · 2015: 2 · 2014: 1 · 2012: 5
- FWCI
- 0.35
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Endocrinology and Metabolism Clinics of North America (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Health Sciences › Medicine › Surgery › Pancreatic function and diabetes
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Keywords
- maternally inherited diabetes and deafness, 3243A>G mutation, mitochondrial DNA, mitochondrial disease, insulin biosynthesis, diabetes pathogenesis
- MeSH terms
- Deafness, Diabetes Mellitus, DNA, Mitochondrial, Female, Glucose, Humans, Insulin, Mitochondria, Point Mutation, Insulin-Secreting Cells
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