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© 1993 Oxford University Press

RESEARCH-ARTICLE

A new point mutation associated with mitochondrial encephalomyopathy

K.J. Morten, J.M. Cooper1, G.K. Brown2, B.D. Lake3, D. PIke4 and J. Poulton*

Department of Paediatrics, University of Oxford, John RadcIffe Hospital Oxford OX3 9DU 1Department of Neurological Science, Royal Free Hospital School of Medicine, University of London London NW3 2PF 2Department of Biochemistry, University of Oxford Oxford 3Department of Histopathology, Hospital for Sick Children, Great Ormond street, London WCIN 3JH 4DNA laboratory, Churchill Hospital Oxford, UK

*To whom correspondence should be addressed

Received August 19, 1993; Revised September 22, 1993; Accepted September 22, 1993

Point mutations In the mitochondrlal gene tRNA leucine(UUR) have been associated with maternally Inherited mItochondrlal myopathies Including the MELAS syndrome (Mitochondrial Myopathy Encephalopathy Lactic acIdosis and Stroke-like episodes). We describe a further mutation in tRNA leucine(UUR) in a patient with mItochondrlal encephalomyopathy, pigmentary retinopathy, dementia, hypoparathyroidism and diabetes mellltus. The mutation was heteroplasmic In the proband's blood (30%) and muscle (76%); It was present at high levels in the proband's affected mother (50% In muscle), and at low levels (<10%) In blood, muscle and fibroblasts of an unaffected sister. The mutation was not found in 121 normal controls or 35 other patients with mltochondrlal disorders. The mutation is at a highly conserved position in the tRNA molecule, close to the 3, 243 mutation which is associated with more than 80% of MEALS cases. Further more, both mutations lie within a possible transcriptional control region. This finding adds further support to the evidence that mutations in this region and In other mltochondrial tRNA genes may cause disease.


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