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Gerontology. 2008;54(3):168-72. doi: 10.1159/000127415. Epub 2008 Apr 16.

Markedly different clinical features in 2 diabetes mellitus patients with extremely high tissue levels of the mitochondrial DNA A3243G mutation.

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1
Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan. harihara@biol.s.u-tokyo.ac.jp

Abstract

BACKGROUND:

Mitochondrial DNA (mtDNA) A3243G mutation is one of the major causative factors of mitochondrial diabetes mellitus. We found that tissues from 2 of 142 diabetes mellitus patients showed extremely high levels of the mutation.

OBJECTIVE:

To investigate the level of the mutation in each tissue and to find the relationship between the mutation level and clinical features of the patients.

METHODS:

Patient 1 was a 51-year-old woman, diagnosed as having diabetes mellitus at the age of 17, and was admitted to hospital because of cerebral infarction. Patient 2 was an 82-year-old woman who was admitted because of respiratory failure. mtDNA A3243G levels were measured in tissues collected at autopsy.

RESULTS:

In patient 1, mtDNA A3243G levels were found to vary among the tissues. The patient's highest mtDNA A3243G value was 42% and the lowest value was 9%, whereas the level in most individuals is usually less than 1%. Although patient 2 did not exhibit serious clinical symptoms of diabetes mellitus, the mtDNA A3243G level was extremely high in all of the tissues surveyed (range 32-47%).

CONCLUSION:

Although both patients showed high levels of the mtDNA A3243G mutation, their clinical conditions differed greatly. Thus, mitochondrial diabetes mellitus patients may show a wide variety of clinical features and large variations in life span.

PMID:
18417955
DOI:
10.1159/000127415
[Indexed for MEDLINE]
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