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Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome.
- Source :
-
Acta Neurologica Scandinavica . Jan2000, Vol. 101 Issue 1, p65-69. 5p. - Publication Year :
- 2000
-
Abstract
- We report the unusual features of a female patient who had MELAS‐specific A3243G mutation in mitochondrial DNA (mtDNA) and diabetes mellitus (DM). The patient showed mitochondrial myopathy, encephalopathy, lactic acidosis, and deafness but lacked the stroke‐like episode. Acute hyperglycemia was noted after one attack of status epilepticus. Molecular genetic analysis demonstrated a heteroplasmic A3243G point mutation in the mtDNAs of muscle, blood cells and hair follicles. Glucagon stimulation test exhibited marked depression of pancreatic β‐cell function. However, in a further study neither this mutation, nor MELAS syndrome or DM, was found in all of her maternal relatives. A series of follow‐up studies for β‐cell function also showed gradual improvement. The pedigree study led us to believe that this A3243G mutation arose from the germ line cells or occurred later in somatic tissues of the patient. We also suggest that the A3243G mutation of mtDNA may elicit the pathogenesis of a subtype of DM. Nevertheless, environmental stress may be another important factor for provocation of the disease. [ABSTRACT FROM AUTHOR]
- Subjects :
- *MITOCHONDRIAL pathology
*ACIDOSIS
*DIABETES
Subjects
Details
- Language :
- English
- ISSN :
- 00016314
- Volume :
- 101
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Acta Neurologica Scandinavica
- Publication Type :
- Academic Journal
- Accession number :
- 5221035
- Full Text :
- https://doi.org/10.1034/j.1600-0404.2000.00009.x