Online Mendelian Inheritance in Man (OMIM)

TRANSFER RNA, MITOCHONDRIAL, ASPARTIC ACID; MTTD

Alternative titles; symbols

tRNA-ASP, MITOCHONDRIAL

The mitochondrial tRNA for aspartic acid is encoded by nucleotides 7518-7585.

Seneca et al. (2005) reported a 21-year-old woman with isolated progressive exercise intolerance. Clinical and biochemical studies documented a mitochondrial myopathy. Molecular studies demonstrated a novel A7526G mutation in the tRNA(Asp) gene. The woman had first presented at the age of 12 years for severe exercise intolerance and increased creatine kinase levels. Symptoms were present since the age of 9 and were gradually worsening. Sustained exercise resulted in muscle pains and general malaise. The mutation was almost homoplasmic in muscle tissue from the patient, with a mutant DNA load of almost 100%. In contrast, the mutation was barely detectable in the patient's blood or fibroblasts. The mutation was not detected in muscle tissue from the patient's mother.

1. Seneca, S., Goemans, N., Van Coster, R., Givron, P., Reybrouck, T., Sciot, R., Meulemans, A., Smet, J., Van Hove, J. L. K. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy. Am. J. Med. Genet. 137A: 170-175, 2005. [PubMed: 16059939, related citations] [Full Text]