coenzyme Q10 deficiency

coenzyme Q10 deficiency

An autosomal recessive disorder (OMIM:607426) with three main clinical phenotypes:
(1) Ataxic form with cerebellar atrophy;
(2) Infantile encephalomyopathic form with renal dysfunction; and
(3) Predominantly myopathic form with CNS involvement.

Molecular pathology
Defects of APTX on chromosome 9p13.3, which encodes aprataxin (a DNA-binding protein involved in single- and double-stranded DNA break repair and base excision repair), cause coenzyme Q10 deficiency.
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References in periodicals archive ?
Recent studies have found that T2DM patients have significantly lower levels of coenzyme Q10 than healthy people [1, 14-16], which indicates that coenzyme Q10 deficiency may reduce the organism's ability to counter hyperglycemia-induced oxidative stress in T2DM [17, 18].
Coenzyme Q10 deficiency, particularly ubiquinol (the reduced form of coenzyme Q10) deficiency, is often observed among patients with T2DM.
(2009) Myopathic coenzyme Q10 deficiency. Acta Myologica 28, 41.
Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.
Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch NeuroL 2005 62:317-320.
Part I discusses a variety of topics and conditions, including p62 regulation, neurodegeneration, Crohn's disease, atherosclerosis, diabetic cardiomyopathy, hyperglycemic oxidative stress, cellular defense, coenzyme Q10 deficiency, and dioxin toxicity.
Coenzyme Q10 deficiency has been proposed to have a role in HMG-CoA reductase--inhibitor induced myopathies that can be seen with prescription statins, and occasionally RYR as well.
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. J Neurol Sci 1998; 156:41-6.
The researchers concluded that there was insufficient evidence to prove the etiologic role of coenzyme Q10 deficiency in statin-associated myopathy.
Coenzyme Q10 deficiency in patients with Parkinson's disease.
This nutrient is especially critical for anyone on cholesterol-lowering medications, even if there is no heart problem, as these medications cause coenzyme Q10 deficiency, and this nutrient is critical for energy production.
Coenzyme Q10 deficiency and response to supplementation in pediatric and adolescent migraine.