Biomedical subjects

Mercè Pineda

Publications and source records attributed to Mercè Pineda.

4 recordsLinked to original sources

PubMed2006

Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.

UNLABELLED: Our aim was to report a new case with cerebellar ataxia associated with coenzyme Q10 (CoQ) deficiency, the biochemical findings caused by this deficiency and the response to CoQ supplementation. PATIENT: A 12-year-old girl presenting ataxia and cerebellar atrophy. BIOCHEMICAL STUDIES: Coenzyme Q10 in muscle was analysed by HPLC with electrochemical detection and mitochondrial respiratory chain (MRC) enzyme activities by spectrophotometric methods. CoQ biosynthesis in fibroblasts was assayed by studying the incorporation of radiolabeled 4-hydroxy[U 14C] benzoic acid by HPLC with radiometric detection. RESULTS: Mitochondrial respiratory chain enzyme analysis showed a decrease in complex I + III and complex II + III activities. CoQ concentration in muscle was decreased (56 nmol/g of protein: reference values: 157-488 nmol/g protein). A reduced incorporation of radiolabeled 4-hydroxy[U- 14C] benzoic acid was observed in the patient (19% of incorporation respect to the median control values). After 16 months of CoQ supplementation, the patient is now able to walk unaided and cerebellar signs have disappeared. CONCLUSIONS: Cerebellar ataxia associated with CoQ deficiency in our case might be allocated in the transprenylation pathway or in the metabolic steps after condensation of 4-hydroxybenzoate and the prenyl side chain of CoQ. Clinical improvement after CoQ supplementation was remarkable, supporting the importance of an early diagnosis of this kind of disorders.

Antioxidants↗

PubMed2006

The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.

Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the substrate DNA templates. However, around 5-10% of clinically well defined RTT patients do not show any mutations in this gene. Several hypotheses have been postulated to clarify the remaining unexplained RTT cases. We pointed our attention on Kaiso gene. This gene is localized in the Xq23 region and codifies for a protein acting as a methyl-CpG binding protein by using three zinc-finger domains: for this reason it is not strictly related to the MBD family of proteins, even if it may repress transcription of methylated genes as well. To investigate the potential association of Kaiso disfunction with pathogenesis of Rett syndrome, we approached the analysis at two different levels. Primarily, we performed an itemized murine brain expression analysis of Kaiso gene. Expression data and localization made it an excellent candidate as additional causative gene for MECP2 negative, classical RTT patients. On the bases of this data a detailed mutational analysis of 44 patients from Spanish, UK, and Italian archives has been performed to the coding region of Kaiso. No mutation was found while a very frequent polymorphism was identified and characterized. Our study suggests that this gene is not implicated in the RTT molecular pathogenesis, but additional analyses are needed to exclude it as causative gene for X-linked mental retardation disorders.

Animals↗

PubMed2002

Monitoring of idebenone treatment in patients with Friedreich's ataxia by high-pressure liquid chromatography with electrochemical detection.

Idebenone is a quinone analog that is applied in the treatment of several neurological disorders including Friedreich ataxia and mitochondrial encephalomyopathies. Our aim was to develop an easy and sensitive analytical HPLC-procedure for the determination of idebenone in the serum of patients treated with this drug. Serum samples from nine paediatric patients diagnosed with Friedreich ataxia and receiving idebenone treatment were analyzed. Idebenone was separated from serum by reverse high-pressure liquid chromatography and analyzed using an electrochemical detection procedure. No interferences were observed during analysis of patient samples obtained prior to idebenone treatment. Calibration of idebenone concentration indicated a linear range between 500 pmol/l and 5 micromol/l and calculation of within-run and between-run coefficients of variation suggested adequate analytical quality for reliable determination. In agreement with previously reported data, during drug therapy, idebenone serum concentrations (basal conditions, range 0.1-0.49 micromol/l) were greatly elevated 90 min after an oral dose (range 0.66-3.63 micromol/l). Thus, we have developed a simple and rapid method that offers adequate analytical quality for accurate idebenone determination.

Adolescent↗

PubMed2001

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Journal Article↗