A novel mutation in the mitochondrial tRNA{sup Asn} gene associated with a lethal disease
- Laboratoire de Biochimie A, Centre Hospitalier et Universitaire de Caen, Avenue Cote de Nacre, 14033 Caen cedex (France)
- Service d'Anatomie Pathologique, Centre Hospitalier et Universitaire de Caen, Avenue Cote de Nacre, 14033 Caen cedex (France)
- Departement de Genetique et Reproduction, Centre Hospitalier et Universitaire de Caen, Avenue Cote de Nacre, 14033 Caen cedex (France)
- Departement de Pediatrie, Centre Hospitalier et Universitaire de Caen, Avenue Cote de Nacre, 14033 Caen cedex (France)
- INSERM U694, Laboratoire de Biochimie et Biologie Moleculaire, Centre Hospitalier et Universitaire, 49033 Angers cedex 1 (France)
- INSERM U582-Institut de Myologie, Centre Hospitalier et Universitaire de Pitie-Salpetriere, 75013 Paris (France)
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.
- OSTI ID:
- 20709148
- Journal Information:
- Biochemical and Biophysical Research Communications, Journal Name: Biochemical and Biophysical Research Communications Journal Issue: 3 Vol. 329; ISSN 0006-291X; ISSN BBRCA9
- Country of Publication:
- United States
- Language:
- English
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