Coenzyme Q10 Deficiency —— Special Topic Issue: Molecular Syndromology 2014, Vol. 5, No. 3-4

----- 辅酶Q10缺乏症

ISBN: 9783318027235 出版年：2014 页码：108 S.Karger

Since 1989 an increasing number of patients has been described who all have a low concentration of coenzyme Q10 in skeletal muscle and/or fibroblasts but display diverse pathological phenotypes of mainly neuromuscular and nephrotic diseases. The biosynthesis pathway of coenzyme Q10 is very complex and partially unknown. The objective of this publication is to provide an update for basic and clinical scientists on the current knowledge of this pathway and its defects including the genes involved and the role of coenzyme Q10 in the mitochondrial respiratory chain. Different approaches to studying the syndrome are discussed such as biochemical and genetic diagnosis, clinical presentations and pathogenesis. Major advances in the understanding of the development of the diseases caused by coenzyme Q10 deficiency and their variability come from the study of animal models; they are covered in the chapters on invertebrate and mice models. Finally, currently available therapies as well as new therapeutic approaches are presented. Reflecting the current view of coenzyme Q10 biosynthesis and its major role in the respiratory chain, this publication is of interest to biochemists and neurologists working on mitochondria and bioenergetics, particularly those involved in the diagnosis and treatment of mitochondrial diseases.