The C-->A mutation at nt 15452 in the cytb gene was associated with >50% reduced Complex III activity in 5 of 6 patients, suggesting a role in the pathophysiology of ischemic cardiomyopathy.
Case-Control
Is the C-->A mutation at nt 15452 in the cytb gene associated with reduced Complex III activity in patients with ischemic cardiomyopathy?
A specific heteroplasmic C-->A mutation at nt 15452 in the cytb gene is associated with significantly reduced Complex III activity, suggesting a pathophysiological role in ischemic cardiomyopathy.
We report a high incidence of reduced respiratory Complex III activity in heart muscle concomitant with the presence of a specific mutation in cytochrome b (cytb) in patients with ischemic cardiomyopathy. This C-->A mutation at nt 15452 converts the 236th residue of cytb from a leucine to isoleucine, is heteroplasmic and was observed in only 2 of 43 controls. Complex III activity is reduced (> 50%) in 5 of 6 patients with the C-->A15452 mutation suggesting that the cytb mutation is responsible for decreased Complex III activity and may play a role in the pathophysiology of ischemic cardiomyopathy.
Marı́n-Garcı́a et al. (Tue,) conducted a case-control in Ischemic cardiomyopathy. C-->A mutation at nt 15452 in cytochrome b (cytb) vs. Controls was evaluated on Reduced respiratory Complex III activity. The C-->A mutation at nt 15452 in the cytb gene was associated with >50% reduced Complex III activity in 5 of 6 patients, suggesting a role in the pathophysiology of ischemic cardiomyopathy.