Molecular diagnosis of coenzyme Q10 deficiency: an update
Por:
Yubero-Siles D, Montero-Sanchez R, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R
Publicada:
1 ene 2018
Ahead of Print:
30 may 2018
Resumen:
Introduction: Coenzyme Q(10) (CoQ) deficiency syndromes comprise a growing number of genetic disorders. While primary CoQ deficiency syndromes are rare diseases, secondary deficiencies have been related to both genetic and environmental conditions, which are the main causes of biochemical CoQ deficiency. The diagnosis is the essential first step for planning future treatment strategies, as the potential treatability of CoQ deficiency is the most critical issue for the patients.Areas covered: While the quickest and most effective tool to define a CoQ-deficient status is its biochemical determination in biological fluids or tissues, this quantification does not provide a definite diagnosis of a CoQ-deficient status nor insight about the genetic etiology of the disease. The different laboratory tests to check for CoQ deficiency are evaluated in order to choose the best diagnostic pathway for the patient.Expert commentary: New insights are being discovered about the implication of new proteins in the intricate CoQ biosynthetic pathway. These insights reinforce the idea that next generation sequencing diagnostic strategies are the unique alternative in terms of rapid and accurate molecular diagnosis of CoQ deficiency.
Filiaciones:
Yubero-Siles D:
a Department of Genetic and Clinical Biochemistry , Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER) , Barcelona , Spain
Montero-Sanchez R:
a Department of Genetic and Clinical Biochemistry , Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER) , Barcelona , Spain
Santos-Ocaña C:
b Centro Andaluz de Biología del Desarrollo , Universidad Pablo de Olavide and CIBERER , Sevilla , Spain
Salviati L:
c Clinical Genetics Unit, Department of Pediatrics , University of Padova , Italy
Artuch-Iriberri R:
a Department of Genetic and Clinical Biochemistry , Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER) , Barcelona , Spain
|