Cardiovascular Week
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Mitochondrial Disease
Research findings from A.J. Duncan et al update understanding of mitochondrial disease
July 13th, 2009
"Coenzyme Q(10) is a mobile lipophilic electron carrier located in the inner mitochondrial membrane. Defects of coenzyme Q(10) biosynthesis represent one of the few treatable mitochondrial diseases," scientists in London, the United Kingdom report. "We genotyped a patient with primary coenzyme Q(10) deficiency who presented with neonatal lactic acidosis and later developed multisytem disease including intractable seizures, global developmental delay, hypertrophic cardiomyopathy, and renal tubular dysfunction. Cultured skin fibroblasts from the patient had a coenzyme Q(10) biosynthetic rate of 11% of normal controls and accumulated an abnormal metabolite that we believe...
Source: Cardiovascular Week (2009-07-13)
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