Novel GAA mutations in patients with Pompe disease

Pompe disease is an autosomal recessive disorder linked to GAA gene that leads to a multi-system intralysosomal accumulation of glycogen. Mutation identification in the GM gene can be very important for early diagnosis, correlation between genotype-phenotype and therapeutic intervention. for this purpose, peripheral blood from 57 individuals susceptible to Pompe disease was collected and all exons of GM gene were amplified; the sequences and the mutations were analyzed in silico to predict possible impact on the structure and function of the human protein. in this study, 46 individuals presented 33 alterations in the GM gene sequence, among which five (c.547-67C>G, c.547-39T>G, p.R437H, p.L641V and p.L705P) have not been previously described in the literature. the alterations in the coding region included 15 missense mutations, three nonsense mutations and one deletion. One insertion and other 13 single base changes were found in the non-coding region. the mutation p.G611D was found in homozygosis in a one-year-old child, who presented low levels of GM activity, hypotonia and hypertrophic cardiomyopathy. Two patients presented the new mutation p1705P in association with c.-32-13T>G. They had low levels of GM activity and developed late onset Pompe disease. in our study, we observed alterations in the GM gene originating from Asians, African-Americans and Caucasians, highlighting the high heterogeneity of the Brazilian population. Considering that Pompe disease studies are not very common in Brazil, this study will help to better understand the potential pathogenic role of each change in the GM gene. Furthermore, a precise and early molecular analysis improves genetic counseling besides allowing for a more efficient treatment in potential candidates. (C) 2015 Elsevier B.V. All rights reserved.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Universidade Federal de São Paulo, Dept Biophys, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pediat, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psychobiol, São Paulo, BrazilGenzyme Brasil A Sanofi Co, Personalized Genet Hlth, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Biophys, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pediat, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Psychobiol, São Paulo, BrazilFAPESP: 2008/06676-8Web of Scienc

Investigation on chemical composition and optimization of essential oil obtainment from waste Pinus taeda L. using hydrodistillation

ABSTRACT: The extraction of essential oils obtained by the hydrodistillation of needles/twigs waste of Pinus taeda L. was optimized by applying response surface methodology (RSM), with 24 full factorial design, in order to improve oil essential production, and aggregate value to the production chain of pine wood. Through the model it was possible to ascertain the influence of the variables in the average amount of essential oil (0.1032 mL), being the variables analyzed: biomass - Bm (x1), extraction time - ET (x2), Bm:ET (x1x2) and sample size - SS: drying times - DT (x3x4). Only linear terms (biomass and extraction time) and your interaction demonstrated significant positive values (0.0344, 0.0206 and 0.0131). The major components of the essential oil identified by GC-MS were: β-phellandrene: (30.39 and 22.44%), tricyclene (26.14 and 20.46%), β-myrcene (14.32 and 11.50%), β-pinene (22.49 and 1.43%) and α-pinene (0.25 and 11.26%) in the years 2011 and 2012, respectively. Our results show that the essential oil obtained from P. taeda represents a way of using some of the waste generated by the timber industry. The process of obtaining doesn't require treatments such as controlled drying or size reduction of the sample, indicating that it can be used in an industrial scale