High Prevalence of Impaired Glucose Homeostasis and Myopathy in Asymptomatic and Oligosymptomatic 3243A>G Mitochondrial DNA Mutation-Positive Subjects
| Autor: | Marianne Schwartz, Kirsten Ohm Kyvik, Anja Lisbeth Frederiksen, Ole Schmitz, John Vissing, Per Heden Andersen, Tina D. Jeppesen, Per Løgstrup Poulsen |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male medicine.medical_specialty Ataxia Adolescent Endocrinology Diabetes and Metabolism Clinical Biochemistry Biology DNA Mitochondrial Biochemistry Diabetes mellitus genetics Oxygen Consumption Endocrinology Muscular Diseases Internal medicine Glucose Intolerance Diabetes Mellitus medicine Homeostasis Humans Glucose homeostasis Child Myopathy Aged Glucose tolerance test medicine.diagnostic_test Point mutation Biochemistry (medical) Glucose Tolerance Test Middle Aged Heteroplasmy Phenotype Case-Control Studies Mutation Mutation (genetic algorithm) Female medicine.symptom |
| Zdroj: | Frederiksen, A L, Jeppesen, T D, Vissing, J, Schwartz, M, Kyvik, K O, Schmitz, O, Poulsen, P L & Andersen, P H 2009, ' High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A >G mitochondrial DNA mutation-positive subjects ', Journal of Clinical Endocrinology and Metabolism, vol. 94, no. 8, pp. 2872-9 . https://doi.org/10.1210/jc.2009-0235 |
| ISSN: | 1945-7197 0021-972X |
| DOI: | 10.1210/jc.2009-0235 |
| Popis: | Udgivelsesdato: 2009-Aug INTRODUCTION: The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness (MIDD). The mutation may also cause myopathy, ataxia, strokes, ophthalmoplegia, epilepsy, and cardiomyopathy in various combinations. Consequently, it is difficult to predict the "phenotypic risk profile" of 3243A>G mutation-positive subjects. The 3243A>G mutation coexists in cells with wild-type mtDNA, a phenomenon called heteroplasmy. The marked variability in mutation loads in different tissues is the main explanation for the different phenotypes associated with this mutation. AIM: The aim of the study was to screen asymptomatic and oligosymptomatic 3243A>G mtDNA carriers for diabetes and myopathy. METHODS: The study is a case-control study. Nineteen adult 3243A>G carriers presumed to be normoglycemic and matched healthy controls were subjected to an oral glucose tolerance test. Twenty-six adult 3243A>G carriers with unknown myopathy status and 17 healthy controls had a maximal cycle test and a muscle biopsy performed. The mutation loads were quantified in blood and muscle biopsies and correlated to the clinical manifestations of the mutation. RESULTS: In the presumed normoglycemic 3243A>G-positive subjects, one subject had overt diabetes, and 10 subjects had impaired glucose tolerance. Sixteen of the 26 subjects with unknown oxidative capacity fulfilled criteria for myopathy. The mutation load in blood and muscle correlated with the age for diagnosis of impaired glucose homeostasis and hearing impairment (rho = -0.71 to -0.78; P < 0.0001). CONCLUSION: The findings suggest that 3243A>G mutation carriers should be screened for diabetes and myopathy. |
| Databáze: | OpenAIRE |
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