Abstract Mucolipidosis II and III (ML II and III) alpha/beta and ML III gamma are lysosomal diseases caused by GlcNAc-1-phosphotransferase deficiency. Previous data indicate that MLII patients have functionally impaired immune system that contributes to predisposition to infections.We evaluated the immunological phenotype of three Brazilian patients with ML III gamma. Our data suggest that the residual activity of GlcNAc-1-phosphotransferase in patients with ML III gamma is enough to allow the targeting of the lysosomal enzymes required for B-cell functions maintenance.

Com o avanço e a popularização de técnicas moleculares, a identificação de mutações genéticas que causam doenças aumentou drasticamente. Deste modo, o número de laboratórios disponíveis para investigar uma determinada doença e, consequentemente, o número de diagnósticos, aumentou ao longo do tempo. Embora seja necessário identificar mutações e fornecer diagnósticos, é crucial também desenvolver abordagens terapêuticas específicas baseadas nestas informações. Esta revisão tem como objetivo destacar os avanços recentes em terapias mutação-alvo com produtos químicos que mitiguem a patologia mutacional ao nível molecular, para doenças que, para a maior parte, não têm tratamento eficaz. Atualmente, existem várias estratégias sendo utilizadas para corrigir diferentes tipos de mutações, incluindo as seguintes: a identificação e caracterização de compostos readthroughtraducionais; redirecionamento de splicingmediado por oligonucleotídeos de sentido contrário; reparo por mismatch; e salto de exon. Estas terapias e outras abordagens são revistas neste artigo.

With the advance and popularization of molecular techniques, the identification of genetic mutations that cause diseases has increased dramatically. Thus, the number of laboratories available to investigate a given disorder and the number of subsequent diagnosis have increased over time. Although it is necessary to identify mutations and provide diagnosis, it is also critical to develop specific therapeutic approaches based on this information. This review aims to highlight recent advances in mutation-targeted therapies with chemicals that mitigate mutational pathology at the molecular level, for disorders that, for the most part, have no effective treatment. Currently, there are several strategies being used to correct different types of mutations, including the following: the identification and characterization of translational readthrough compounds; antisense oligonucleotide-mediated splicing redirection; mismatch repair; and exon skipping. These therapies and other approaches are reviewed in this paper.

The production of extracellular hydrolases by a psychrotrophic bacterium isolated from refrigerated raw milk, and identified as a Pseudomonas sp. belonging to the Pseudomonas jenssenii group, was studied. This bacterium produced proteolytic and lipolytic enzymes in all media investigated (skim milk, cheese whey, casein broth, and tryptone soy broth). High levels of α-glucosidase were produced in skim milk broth. Hydrolytic enzymes detected in skim milk broth are of particular concern, indicating that these enzymes could be produced by Pseudomonas sp. during the cold storage of raw milk, contributing to the spoilage problem in milk and dairy products.