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Title: A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy
Authors: Seneca, Sara ×
Goemans, Nathalie
Van Coster, Rudy
Givron, Patrice
Reybrouck, Tony
Sciot, Raphael
Meulemans, Ann
Smet, Joel
Van Hove, Johan L K #
Issue Date: Aug-2005
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:137 issue:2 pages:170-5
Abstract: Several mutations in mitochondrial transfer RNA (tRNA) genes can cause mitochondrial myopathy. We describe a young girl who presented with pronounced exercise intolerance. The anaerobic threshold and the maximal oxygen consumption were decreased. She had decreased complex I and IV enzyme activity and ragged red fibers on muscle biopsy. An A to G transition at nucleotide position 7526 in tRNA Aspartate (tRNA(Asp)) gene was heteroplasmic in several of the patient's tissues. We were unable to detect the mutation in muscle tissue from the patient's mother. This case adds a new genetic etiology for mitochondrial myopathy. It also illustrates for patients with combined deficiency of the complex I and IV enzyme activity the value of sequencing in the affected tissue muscle, and not only in blood, all mitochondrial tRNA genes including those not commonly affected, such as in this case mt tRNA(Asp).
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Cell & Tissue Research
Section Child - Miscellaneous (-)
Research Group for Cardiovascular and Respiratory Rehabilitation
× corresponding author
# (joint) last author

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