Skip to Content
Merck
  • Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs.

Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs.

Wiley interdisciplinary reviews. RNA (2011-10-01)
Tsutomu Suzuki, Asuteka Nagao, Takeo Suzuki
ABSTRACT

Mitochondrial DNA mutations that cause mitochondrial dysfunction are responsible for a wide spectrum of human diseases, referred to as mitochondrial diseases. Pathogenic point mutations are found frequently in genes encoding mitochondrial (mt) tRNAs, indicating that impaired functioning of mutant mt tRNAs is the primary cause of mitochondrial dysfunction. Our previous studies revealed the absence of posttranscriptional taurine modification at the anticodon wobble uridine in mutant mt tRNAs isolated from cells derived from patients with two major classes of mitochondrial diseases, MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) and MERRF (myoclonus epilepsy associated with ragged red fibers). Defective taurine modification of the mutant mt tRNAs results in a deficiency in protein synthesis as the cognate codons of the mutant mt tRNA cannot be decoded. These findings represent the first evidence of a molecular pathogenesis caused by an RNA modification disorder.

MATERIALS
Product Number
Brand
Product Description

Supelco
Taurine, Pharmaceutical Secondary Standard; Certified Reference Material
Sigma-Aldrich
Taurine, BioUltra, ≥99.5% (T)
Sigma-Aldrich
Taurine, ≥98%, FG
Sigma-Aldrich
Taurine, ≥99%
Sigma-Aldrich
Taurine, suitable for cell culture, meets USP testing specifications
SAFC
Taurine