Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two mutations comprise the majority of mutant alleles in Jewish patients, while mutations in the ASPA gene among non-Jewish patients are different and more diverse. In the present study, the ASPA gene was analysed in 22 unrelated non-Jewish patients with Canavan disease, and 24 different mutations were found. of these,14 are novel, including five missense mutations (E24G, D68A, D249V, C152W, H244R), two nonsense mutations (Q184X, E214X), three deletions (923delT, 33del13, 244delA), one insertion mutation (698insC), two sequence variations in one allele ([10T>G; 11insG]), an elimination of the stop codon (941A>G, TAG-->TGG, X314W), and one splice acceptor site mutation (IVS1 - 2A>T). The E24G mutation resulted in substitution of an invariable amino acid residue (Glu) in the first esterase catalytic domain consensus sequence. The IVS1 - 2A>T mutation caused the retention of 40 nucleotides of intron 1 upstream of exon 2. The results of transient expression of the mutant ASPA cDNA containing these mutations in COS-7 cells and assays for ASPA activity of patient fibroblasts indicated that these mutations were responsible for the enzyme deficiency. In addition, patients with the novel D249V mutation manifested clinically at birth and died early. Also, patients with certain other novel mutations, including C152W, E214X, X314W, and frameshift mutations in both alleles, developed clinical manifestations at an earlier age than in classical Canavan disease.

The Magic Toyshop: A narrativa imagética como processo de recriação

Because it belongs to a cultural practice, the adaptation of a novel into a feature film will always exist within a context and, for being subject to changes, corresponding modifications in the political sphere and even variations in the meaning of the story may occur. This seems to be precisely the result of the transformation of Angela Carter's second novel, The Magic Toyshop, into the homonymous film, directed by David Whealtey in 1987. Removed from the context of the book's production and publication, a crucial period of questioning about the importance of women in society and culture, the plot created by the English author in the sixties, rewritten two decades later, with the author herself as the script writer, seems to have acquired another meaning during this time. Although the film maintains the same plot of the novel, the political engagement visibly present in the narrative, namely Carter's critical stance about the model of patriarchal society, seems to lose its strength, highlighting now its fantastic character. Briefly discussing issues such as loyalty and betrayal of one gender to another, we seek in this paper to observe the film, based on the re-writers perspective, in other words, the prospects of both writer and director, as a process of rebuilding the story. In this dialogue, the script was also used as an intertext for a better understanding of this process.

Confinamento e vastidão: a representação feminina e a subversão em The magic toyshop

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Confinamento e vastidão: a representação feminina e a subversão em The Magic Toyshop

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

A identidade feminina em The Magic Toyshop: estudos de gênero no texto e na tela

Besides producing a vast literary work, Angela Carter (1940-1992) participated of the screenplay’s production for two movies based on her books, The Company of Wolves and The Magic Toyshop. Either through the influence that cinema had in her life or through the very own style of her writing, the relation of the British author with the seventh art is visible. Considering the importance of significations in literary works, this paper proposes a comparative study between Angela Carter’s The Magic Toyshop (1967) and the film of the same title, based on Carter’s novel, directed by David Wheatley and produced by Granada Television, in 1987. Based on Tania Carvalhal’s conception about intertextuality and film theories, the focus of this paper is the gender study, since its ideology is subscribed, represented and reproduced in every cultural practice, including literature and cinema. The characters construction in both cases, especially the female characters, is filled with symbols which are going to bring the film closer to the literary work and contribute to express the critics suggested in the work’s leading: the complaint to the patriarchal system. However, given the different nature of each work, it is necessary to stress that this present comparison doesn’t intend to establish a total identification between novel and film, but to set a dialogue between both, observing the approximation and distance of these two instances.