A novel mutation in the mitochondrial tRNA{sup Asn} gene associated with a lethal disease

We describe a lethal mitochondrial disease in a 10-month-old child who presented with encephalomyopathy. Histochemical and electron microscopy examinations of skeletal muscle biopsy revealed abnormal mitochondria associated with a combined deficiency of complexes I and IV. After excluding mitochondr...

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Bibliographic Details
Published in:Biochemical and biophysical research communications Vol. 329; no. 3
Main Authors: Coulbault, Laurent, Herlicoviez, Danielle, Chapon, Francoise, Read, Marie-Helene, Penniello, Marie-Jose, Reynier, Pascal, Fayet, Guillemette, Lombes, Anne, Jauzac, Philippe, Allouche, Stephane
Format: Journal Article
Language:English
Published: United States 15-04-2005
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Summary:We describe a lethal mitochondrial disease in a 10-month-old child who presented with encephalomyopathy. Histochemical and electron microscopy examinations of skeletal muscle biopsy revealed abnormal mitochondria associated with a combined deficiency of complexes I and IV. After excluding mitochondrial DNA deletions and depletion, direct sequencing was used to screen for mutation in all transfer RNA (tRNA) genes. A T-to-C substitution at position 5693 in the tRNA{sup Asn} gene was found in blood and muscle. Microdissection of muscle biopsy and its analysis revealed the highest level of this mutation in cytochrome c oxidase (COX)-negative fibres. We suggest that this novel mutation would affect the anticodon loop structure of the tRNA{sup Asn} and cause a fatal mitochondrial disease.
ISSN:0006-291X
1090-2104
DOI:10.1016/j.bbrc.2005.02.083