Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA

Abstract

Our study found that seizures and status epilepticus are the most important predictive values for a poor outcome in patients with the mtA3243G mutation of mtDNA. Age of onset and visceral organ involvement had no prominent influence on the prognosis. Some medical complications could be well controlled or even reversed after management.

Maternally inherited coronary heart disease is associated with a novel mitochondrial tRNA mutation

“…This mutations is predicted to destabilize the base-pairing at this site (25C-10G), potentially altering the secondary structure of this tRNA, as has previously been reported for the tRNA Ile 4300A > G and tRNA-Leu(UUR) 3273 T > C mutations [16,17]. When cybrid cells bearing this mutation were generated, their baseline tRNA Thr levels were reduced by 37.5% relative to healthy control cells, suggesting that there may be a resultant destabilization of this mutated tRNA Thr resulting in its more rapid degradation, as previously described previously such as the 3243A > G mutation of tRNA Leu(UUR) [18][19][20][21]. As the mitochondrial dysfunction stemming from the 15910C > T mutation was relatively mild, this suggests that this mutation alone is unlikely to cause CHD.…”

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

“…The prevalence of neuropathy in patients with m.3243A>G has been reported to range between 5% and 77% (Chinnery et al , 1997; Kärppä et al , 2003; Kaufmann et al , 2006; Liu et al , 2012). In a previous study, neurophysiological examination of seven patients with m.3243A>G disclosed a peripheral neuropathy with mixed axonal and demyelinating features in six cases and uniform demyelinating features in one case.…”

Maternally inherited coronary heart disease is associated with a novel mitochondrial tRNA mutation

“…When cybrid cells bearing this mutation were generated, their baseline tRNA Thr levels were reduced by 37.5% relative to healthy control cells, suggesting that there may be a resultant destabilization of this mutated tRNA Thr resulting in its more rapid degradation, as previously described for the 3243A>G mutation of tRNA Leu(UUR) [15][16][17] . As the mitochondrial dysfunction stemming from the 15910C>T mutation was relatively mild, this suggests that this mutation alone is unlikely to cause CHD.…”