alexa 176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency


Research & Reviews: Journal of Nursing and Health Sciences

Author(s): Shamima Rahman, Catherine F Clarke, Michio Hirano

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An ENMC meeting was held in Naarden, the Netherlands (July 9–11th 2010) with 12 clinical and basic scientists and 3 industrial representatives from Europe (France, Belgium, Germany, Italy, Spain, Switzerland, the Netherlands and the UK) and the USA, to discuss their collective experience with the molecular underpinnings, diagnosis, and management of patients with deficiency of coenzyme Q10 (CoQ10). CoQ10, also known as ubiquinone, is a unique electron carrier [1]. It is essential for aerobic organisms because of its role in mitochondrial energy production as a chaperone of electrons from complexes I and II (and also from the electron transfer flavoproteins, ETF) to complex III of the respiratory chain. In addition, this lipophilic molecule has numerous other vital functions in cells that include: serving as antioxidant in both lipoproteins and cell membranes; connecting energy production with important cellular pathways such as the cell cycle and DNA replication and repair through its role in pyrimidine biosynthesis; modulation of apoptosis through its regulation of the transition pore; and maintenance of body temperature via its action on uncoupling proteins. The aims of this workshop were: to define how to clinically recognise and diagnose patients with CoQ10 deficiency; to optimize strategies to identify the underlying molecular genetic defects; to review basic CoQ10 biology; and to delineate therapeutic options for this group of disorders, which represent the most readily treatable subset of mitochondrial diseases.

This article was published in Neuromuscular disorders and referenced in Research & Reviews: Journal of Nursing and Health Sciences

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