Background: Mutations or deletions of mitochondrial DNA (mtDNA) define a new diabetes subtype.
Patients And Method: The A3243G and C3256T mutations and mtDNA deletions were studied in 41 diabetic patients with maternally inherited diabetes mellitus or deafness.
Results: The A3243G mutation was found in one out of forty-one diabetic patients (2.4%). Neither the C3256T mutation nor mtDNA deletions were detected.
Conclusions: The search of A3243G mutation has to be considered in a diabetic patient with deafness and/or maternal history of diabetes.
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http://dx.doi.org/10.1016/s0025-7753(01)71803-9 | DOI Listing |
Headache
December 2004
Department of Neurology, Michigan Head-Pain and Neurological Institute, Ann Arbor 48104, USA.
Ten patients with migraine with prolonged aura were studied for the presence of mitochondrial DNA point mutations utilizing DNA isolated from blood and hair samples. We analyzed for nine point mutations reported in patients with MELAS (A3243G, C3256T, T3271C, T3291C, A5814G, T8356C, T9957C, G13513A, and A13514G) and three secondary LHON mutations (T4216C, A4917G, and G13708A). None of the patients tested had any of these mutations in mitochondrial DNA.
View Article and Find Full Text PDFEMBO Rep
January 2003
Laboratoire de Génétique Moléculaire, Institut de Génétique et Microbiologie, Bâtiment 400, Université Paris Sud, 91405 Orsay Cedex, France.
We have taken advantage of the similarity between human and yeast (Saccharomyces cerevisiae) mitochondrial tRNA(Leu)(UUR), and of the possibility of transforming yeast mitochondria, to construct yeast mitochondrial mutations in the gene encoding tRNA(Leu)(UUR) equivalent to the human A3243G, C3256T and T3291C mutations that have been found in patients with the neurodegenerative disease MELAS (for mitochondrial 'myopathy, encephalopathy, lactic acidosis and stroke-like episodes'). The resulting yeast cells (bearing the equivalent mutations A14G, C26T and T69C) were defective for growth on respiratory substrates, exhibited an abnormal mitochondrial morphology, and accumulated mitochondrial DNA deletions at a very high rate, a trait characteristic of severe mitochondrial defects in protein synthesis. This effect was specific at least in the pathogenic mutation T69C, because when we introduced A or G instead of C, the respiratory defect was absent or very mild.
View Article and Find Full Text PDFBackground: Mutations or deletions of mitochondrial DNA (mtDNA) define a new diabetes subtype.
Patients And Method: The A3243G and C3256T mutations and mtDNA deletions were studied in 41 diabetic patients with maternally inherited diabetes mellitus or deafness.
Results: The A3243G mutation was found in one out of forty-one diabetic patients (2.
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