Article
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
The Journal of clinical investigation - 19 Jan 2021
Sharma Rohit, Reinstadler Bryn, Engelstad Kristin, Skinner Owen S, Stackowitz Erin, Haller Ronald G, Clish Clary B, Pierce Kerry, Walker Melissa A, Fryer Robert, Oglesbee Devin, Mao Xiangling, Shungu Dikoma C, Khatri Ashok, Hirano Michio, De Vivo Darryl C, Mootha Vamsi K
Abstract excerpt
Mitochondrial disorders represent a large collection of rare syndromes that are difficult to manage both because we do not fully understand biochemical pathogenesis and because we currently lack facile markers of severity. The m.3243A>G variant is the most common heteroplasmic mitochondrial DNA mutation and underlies a spectrum of diseases, notably mitochondrial encephalomyopathy lactic acidosis and stroke-like...
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