IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES

The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed according to the following criteria: partial epilepsy with auditory symptoms, negative family history for epilepsy and absence of cerebral lesions on NMR study. All patients underwent a full clinical, neuroradiological and neurophysiological examination. Forty patients were screened for mutations in LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39 years (average 19 years). Secondarily generalized seizures were the most common type of seizures at onset (79%). Auditory auras occurred either in isolation (53%) or associated with visual, psychic or aphasic symptoms. Low seizure frequency at onset and good drug responsiveness were common, with 51% of patients seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no major differences were found between S and F patients with respect to age at onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin exons failed to disclose mutations. Our data support the existence of a peculiar form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without a positive family history. This syndrome, here named IPEAF, has a benign course in the majority of patients and could be diagnosed by the presence of auditory aura. Although LGI1 mutations have been excluded, genetic factors may play an aetiopathogenetic role in at least some of these S cases

The making of a mammalian peroxisome, version 2.0: mitochondria get into the mix

This is the author accepted manuscript. The final version is available from Nature Publishing Group via the DOI in this record.A recent report from the laboratory of Heidi McBride (McGill University) presents a role for mitochondria in the de novo biogenesis of peroxisomes in mammalian cells (1). Peroxisomes are essential organelles responsible for a wide variety of biochemical functions, from the generation of bile, to plasmalogen synthesis, reduction of peroxides, and the oxidation of very long chain fatty acids (2). Like mitochondria, peroxisomes proliferate primarily through growth and division of pre-existing peroxisomes (3-6). However, unlike mitochondria, peroxisomes do not fuse (5,7); further, and perhaps most importantly, they can also be born de novo, a process thought to occur through the generation of pre-peroxisomal vesicles that originate from the endoplasmic reticulum (reviewed in (8,9). De novo peroxisome biogenesis has been extensively studies in yeast, with a major focus on the role of the ER in this process. Comprehensive studies in mammalian cells are, however, scarce (5,10-12). By exploiting patient cells lacking mature peroxisomes, Sugiura et al. (1) now assign a role to ER and mitochondria in de novo mammalian peroxisome biogenesis by showing that the formation of immature preperoxisomes occurs through the fusion of Pex3- / Pex14-containing mitochondriaderived vesicles with Pex16-containing ER-derived vesicles

Adsorption and Location of methylterbutylether and toluene nonto hydrofhobic ZSM-5 zeolite: a Diffractometric, Thermogravimetric and Gas Chromatographic study.

Chlorinated volatile organic compounds (VOCs), such as 1,1-dichloroethylene (DCE) and aromatic hydrocarbons, BTX (benzene, toluene, and xylene) constitute a significant fraction of the hazardous air and water pollution. Among this category of compounds, Methyl Tertiary Butyl Ether (MTBE) and toluene (TOL) are of special relevance since both are toxic and commonly found in natural water. Recently, high-silica zeolites were shown to be more effective in removing certain organics from water than activated carbon. Particularly, hydrophobic ZSM-5 (MFI-type framework topology) turned out that ZSM5 is the most promising zeolite support for VOC combustion,and many studies in literature deals with the adsorption properties of this zeolite from gas phase mixture. However, it has also been found that in gas phase water play an important role in regulating the interaction between organic compounds and zeolite. In this work, MTBE and TOL adsorption onto an organophilic zeolite ZSM5 was studied by using different combined techniques (diffractometric, thermogravimetric and gas chromatographic) to investigate the mechanisms of adsorption: 1) the adsorptive kinetics and thermodynamics properties of hydrophobic synthetic ZSM5; 2) characterise its structure after the adsorption of MTBE and TOL from aqueous solutions; 3) localise the organic species and water in the ZSM5 channel system

The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations

Arrhythmogenic right ventricular dysplasia/cardiomyopathy type 2 (ARVD2, OMIM 600996) and stress-induced polymorphic ventricular tachycardia (VTSIP, OMIM 604772) are two cardiac diseases causing juvenile sudden death, both associated with mutations in the RyR2 calcium channel. By using a quantitative yeast two-hybrid system, we show that VTSIP- and ARVD2-associated point mutations influence positively and negatively, respectively, the binding of RyR2 to its gating protein FKBP12.6. These findings suggest that ARVD2 mutations increase RyR2-mediated calcium release to cytoplasm, while VTSIP mutations do not affect significantly cytosolic calcium levels, thereby explaining the clinical differences between the two diseases. The present two-hybrid system appears to be an efficient molecular tool to assay the binding of FKBP12s proteins to both cardiac RyR2 and skeletal muscle RyR1 isoforms, circumventing the full-length expression of this class of giant channels. We also provide evidence of the suitability of this system to test new drugs that target RyRs-FKBP12s interactions and do not affect yeast growth

FKRP mutation study in muscular dystrophy of unknown etiology

none7noneBOITO C; MONDELLI E; PRANDINI P; FANIN M; BAGATTIN A; ANGELINI C; PEGORARO E.Boito, Chiara; Mondelli, E; Prandini, P; Fanin, Marina; Bagattin, A; Angelini, Corrado; Pegoraro, Elen

Clinical heterogeneity in limb-girdle muscular dystrophy type 2I

none7nonePEGORARO E.; BOITO C.; MONDELLI E.; PRANDINI P.; BAGATTIN A.; FANIN M.; ANGELINI C.Pegoraro, Elena; Boito, Chiara; Mondelli, E.; Prandini, P.; Bagattin, A.; Fanin, Marina; Angelini, Corrad

Gene symbol: RYR2. Disease: Arrhythmogenic right ventricular cardiomyopathy type 2.

Gene symbol: RYR2. Disease: Arrhythmogenic right ventricular cardiomyopathy type 2