Coenzyme Q10 deficiencies: a group of potentially treatable mitochondrial diseases

Treballs Finals de Grau de Farmàcia, Facultat de Farmàcia i Ciències de l'Alimentació, Universitat de Barcelona, 2020. Tutor/a: Montero Sánchez, Raquel [eng] The main objective of the present project is to critically review the current state of knowledge on a group of mitochondrial disorders known as coenzyme Q10 (CoQ) deficiencies. It has been developed thanks to a deep bibliographic research, using an on-line biomedical database in order to search and select the most recent and relevant articles in this field of study. The project highlights the central role of CoQ in the mitochondrial respiratory chain, but also its involvement in several aspects of cellular metabolism. Given its essential functions, this study also describes how a deficit in this molecule leads to a number of disorders with an unexplained heterogeneous clinical spectrum. In this regard, CoQ deficiencies can occur due to defects of CoQ biosynthesis (primary deficiencies) or due to other causes (secondary forms). In addition, this piece of work emphasizes how biochemical measurements in the patient’s tissues or biological fluids and genetic testing play a crucial role in the diagnostic pathway. A reviewed and updated protocol for the biochemical determination of CoQ status in different specimens is proposed. Finally, this project also states that early diagnosis and initiation of specific treatment is of paramount importance, especially as some CoQ-deficient patients respond well to CoQ supplementation. In conclusion, the study suggests that, despite the advances in the last decades, further elucidation of the biochemistry and genetics of these complex diseases is needed to set the stage for improving the care of patients and the development of novel treatments. [cat] Deficiències de coenzim Q10: un grup de malalties mitocondrials potencialment tractables. El principal objectiu d’aquest treball final de grau és revisar d’una forma crítica el coneixement actual sobre un grup de malalties mitocondrials conegut com a deficiències de coenzim Q10 (CoQ). Ha estat redactat gràcies a una minuciosa recerca bibliogràfica, emprant una base de dades biomèdica on-line per tal de cercar i seleccionar els articles més recents i rellevants en aquest camp. Aquest projecte posa de manifest el rol fonamental del CoQ en la cadena respiratòria mitocondrial, però també la seva participació en un gran nombre de processos del metabolisme cel·lular. Donada la rellevància de les seves funcions, aquest estudi tamb