Navegando por Palavras-chave "GAA gene"

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    Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease
    (Assoc Arquivos Neuro- Psiquiatria, 2016) Llerena Junior, Juan Clinton; Nascimento, Osvaldo J. M.; Oliveira, Acary Souza Bulle [UNIFESP] ; Dourado Junior, Mario Emilio T.; Marrone, Carlo D.; Siqueira, Heloise Helena; Sobreira, Claudia F. R.; Dias-Tosta, Elza; Werneck, Lineu Cesar
    Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme (R)). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L'Hotel Port Bay in Sao Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.
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    Novel GAA mutations in patients with Pompe disease
    (Elsevier B.V., 2015-04-25) Turaca, Lauro Thiago [UNIFESP]; Soares de Faria, Douglas Oliveira [UNIFESP]; Kyosen, Sandra Obikawa [UNIFESP]; Teixeira, Valber Dias [UNIFESP]; Motta, Fabiana Louise [UNIFESP]; Pessoa, Juliana Gilbert [UNIFESP]; Rodrigues e Silva, Marina [UNIFESP]; Almeida, Sandro Soares de [UNIFESP]; D'Almeida, Vania [UNIFESP]; Munoz Rojas, Maria Veronica; Martins, Ana Maria [UNIFESP]; Pesquero, Joao Bosco [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Genzyme Brasil A Sanofi Co
    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.