Cardiovascular Week
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Enzyme Research
Recent findings in enzyme research described by J. Houstek and colleagues
August 3rd, 2009
According to recent research from Prague, Czech Republic, "An increasing number of patients with nuclear genetic defects of mitochondrial ATP synthase have been identified in recent years. They are characterized by early onset, lactic acidosis, 3-methylglutaconic aciduria, hypertrophic cardiomyopathy and encephalopathy and most cases have a fatal outcome." "tissues show isolated defect of the ATP synthase complex and its content decreases to >= 30% of normal due to altered enzyme biosynthesis and assembly. Gene mapping and complementation studies have identified mutations in TMEM70 gene encoding a 30kD mitochondrial protein of unknown function as the cause of the...
Source: Cardiovascular Week (2009-08-03)
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