Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher's Disease in the Goat Mammary Gland

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• 作者：Kaio Cesar Simiano Tavares ; Ana Christina de Oliveira Dias…
• 关键词：Gaucher disease ; Glucocerebrosidase ; Adenovirus ; Recombinant protein ; Milk ; Glycosylation
• 刊名：Molecular Biotechnology
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：58
• 期：1
• 页码：47-55
• 全文大小：3,739 KB
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• 作者单位：Kaio Cesar Simiano Tavares (1)
  Ana Christina de Oliveira Dias (2)
  Cícera Regina Lazzarotto (1)
  Saul Gaudencio Neto (1)
  Igor de Sá Carneiro (1)
  Felipe Ledur Ongaratto (1)
  Antônio Frederico Michel Pinto (2)
  Luís Henrique de Aguiar (1)
  Carlos Enrique Mendez Calderón (1)
  Jorge Roberto Toledo (3)
  Fidel Ovidio Castro (4)
  Diogenes Santiago Santos (2)
  Jocelei Maria Chies (2)
  Marcelo Bertolini (1) (5)
  Luciana Relly Bertolini (1) (6)
  
  1. Molecular and Development Biology Laboratory, Experimental Biology Center, University of Fortaleza (UNIFOR), Fortaleza, CE, Brazil
  2. Quatro G Pesquisa & Desenvolvimento Ltda., Tecnopuc, Porto Alegre, RS, Brazil
  3. Department of Animal Science, Faculty of Veterinary Sciences, Universidad de Concepción (Udec), Concepción, Chile
  4. Department of Physiopathology, Faculty of Veterinary Sciences, Universidad de Concepción (Udec), Chillán, Chile
  5. School of Veterinary Medicine, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil
  6. Biotechnology and Genetic Engineering Lab, School of Pharmacy, Pontifical Catholic University of Rio Grande do Sul (PUCRS), Porto Alegre, RS, Brazil
  
• 刊物主题：Biotechnology; Biochemistry, general; Cell Biology; Protein Science; Biological Techniques; Human Genetics;
• 出版者：Springer US
• ISSN：1559-0305

文摘

Gaucher disease (GD) is an orphan disease characterized by the lack or incapacity of glucocerebrosidase (hGCase) to properly process glucosylceramide, resulting in its accumulation in vital structures of the human body. Enzyme replacement therapy supplies hGCase to GD patients with a high-cost recombinant enzyme produced in vitro in mammalian or plant cell culture. In this study, we produced hGCase through the direct injection of recombinant adenovirus in the mammary gland of a non-transgenic goat. The enzyme was secreted in the milk during six days at a level up to 111.1 ± 8.1 mg/L, as identified by mass spectrometry, showing high in vitro activity. The milk-produced hGCase presented a mass correspondent to the intermediary high-mannose glycosylated protein, which could facilitate its delivery to macrophages through the macrophage mannose receptor. Further studies are underway to determine the in vivo delivery capacity of milk-hGCase, but results from this study paves the way toward the generation of transgenic goats constitutively expressing hGCase in the milk.