7/11/2007

Work and follow-up meeting celebrated in Sitges, Barcelona, Spain. July 18th to 21st. Hospital Sant Joan de Deu. Host: Ph.D. Rafael Artuch.

 

3/4/2007
Sevilla

Work and  follow-up meeting celebrated in Sevilla. March 5th and 6th.

Pablo Olavide University receives participants. Host: Ph.D. Pablo Navas

3/4/2007
By: L. Salviati, S. Sacconi, L. Murer, G. Zacchello, L. Franceschini, A. M. Laverda, G. Basso, C. Quinzii, C. Angelini, M. Hirano, A. B. Naini, P. Navas, S. DiMauro and G. Montini

Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a 33-month-old boy who presented with corticosteroid-resistant nephrotic syndrome in whom progressive encephalomyopathy later developed.

CoQ10 was decreased both in muscle and in fibroblasts. Oral CoQ10 improved the neurologic picture but not the renal dysfunction.

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3/4/2007
By: R. Montero, R. Artuch, P. Briones, A. Nascimento, A. García-Cazorla, M.A. Vilaseca, J.A. Sánchez-Alcázar, P. Navas, J. Montoya, M. Pineda

Coenzyme Q_{10} (CoQ) deficiency syndrome is a disorder of unknown ethiology that may cause different forms of mitochondrial encephalomyopathy. In the present study our aim was to analyse CoQ concentration and mitochondrial respiratory chain (MRC) enzyme activities in muscle biopsies of patients with clinical suspicion and/or biochemical-molecular diagnosis of a mitochondrial disorder. We studied 36 patients classified into 3 groups: 1) 14 patients without a definitive diagnosis of mitochondrial disease, 2) 13 patients with decreased CI+III and II+III activities of the MRC, and 3) 9 patients with definitive diagnosis of mitochondrial disease. Only 1 of the 14 patients of group 1 showed slightly reduced CoQ values in muscle. Six of the 13 patients from group 2 showed partial CoQ deficiency in muscle and 1 of the 9 cases from group 3 presented a slight CoQ deficiency. Significantly positive correlation was observed between CI+III and CII+III activities with CoQ concentrations in the 36 muscle homogenates from patients (r=0.555; p=0.001; and r=0.460; p=0.005, respectively). In conclusion, measurement of MRC enzyme activities is a useful tool for the detection of CoQ deficiency, which should be confirmed by CoQ quantification. PMID: 16873935 [PubMed - indexed for MEDLINE]

3/4/2007
By: Artuch, R., Pineda, M., Vilaseca, M.A., Sánchez-Alcázar, J.A., Navas, P.

In: New frontiers in mitochondrial biogenesis and disease.
Research signpost, (2005), pp, 93-110.

Ubigenes :: Genetics of coenzyme Q deficiency in humans