Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis

The Heart Is Just a Muscle

“…[13][14][15][16] The clinical phenotypes vary widely because of the nature of the inheritance of mitochondrial mutations and range from fatal infantile cardiomyopathy to asymptomatic LV hypertrophy to sudden cardiac death. Some patients have predominant myopathic symptoms, whereas others have no apparent skeletal muscle involvement.…”

“…Overall, this patient's clinical presentation with both cardiomyopathy and myopathy was consistent with the majority of previous reports of the m.3303C>T mutation; moreover, higher heteroplasmy >70% is more consistent with more severe clinical involvement. [13][14][15][16] Treatment for such mitochondrial tRNA mutations includes coenzyme Q10, creatine monohydrate, and α-lipoic acid.…”

Effect of mitochondrial tRNALys mutation on the clinical and biochemical characteristics of Chinese essential hypertensive subjects

“…Only the mutation site of A8348G was previously reported to be associated with the occurrence of the cardiomyopathy, other 6 mutation sites were the first reported by us [13]. Table 1 Mutation site of mitochondrial tRNA Lys in essential hypertensive individuals.…”

Mitochondrial Aminoacyl-tRNA Synthetase Single-Nucleotide Polymorphisms That Lead to Defects in Refolding but Not Aminoacylation

“…Although more severe or long-term effects on human cells cannot be excluded, the ability of the nsSNP variants to function in yeast nevertheless indicates that these mutants do not critically limit mitochondrial import or translation, as reported for other nsSNPs. 22,53,54 The only exception was the S57C/N280S double mutant, which was less active in vivo than either of the respective single mutants, despite the fact that all three hmtPheRSs showed comparable losses in aminoacylation activity in vitro. One notable feature of the S57C/N280S protein is that it unfolds more slowly than either of the single mutants or wild type, potentially leading to defects in protein import and supporting the assertion that unfolding is an important step during translocation of hmtPheRS.…”